Submissions for variant NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)

gnomAD frequency: 0.00246  dbSNP: rs116302615

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176984	SCV000228784	likely benign	not specified	2016-05-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000333258	SCV000454777	likely benign	Atelosteogenesis type II	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000362143	SCV000454778	likely benign	Diastrophic dysplasia	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000269903	SCV000454779	likely benign	Achondrogenesis, type IB	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000327465	SCV000454780	uncertain significance	Sulfate transporter-related osteochondrodysplasia	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000384318	SCV000454781	uncertain significance	Multiple epiphyseal dysplasia type 4	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001704842	SCV000518585	likely benign	not provided	2021-05-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000884358	SCV001027733	benign	Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001704842	SCV001157378	benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000269903	SCV001806150	likely benign	Achondrogenesis, type IB	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000333258	SCV001806151	likely benign	Atelosteogenesis type II	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000362143	SCV001806152	likely benign	Diastrophic dysplasia	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000384318	SCV001806153	likely benign	Multiple epiphyseal dysplasia type 4	2021-07-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001704842	SCV001961910	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SLC26A2: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277384	SCV002567009	likely benign	Connective tissue disorder	2019-03-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000269903	SCV001452728	likely benign	Achondrogenesis, type IB	2019-11-11	no assertion criteria provided	clinical testing