Submissions for variant NM_000441.2(SLC26A4):c.416-7T>C

gnomAD frequency: 0.00178  dbSNP: rs111033387

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Hearing Loss Variant Curation Expert Panel	RCV001004772	SCV001164253	benign	Pendred syndrome	2019-10-02	reviewed by expert panel	curation	The filtering allele frequency of the c.416-7T>C variant in SLC29A4 is 0.59% (169/24960) in African chromosomes in gnomAD (BA1). Additionally, computational prediction tools and conservation analysis suggest that the c.416-7T>C variant may not impact the protein (BP4, BP7). In summary, this variant meets criteria to be classified as benign for autosomal recessive Pendred syndrome. ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: BA1, BP7, BP4.
Eurofins Ntd Llc (ga)	RCV000036495	SCV000343166	likely benign	not specified	2017-04-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000905996	SCV000727302	likely benign	not provided	2021-04-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16570074)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000905996	SCV001050607	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001161067	SCV001322910	uncertain significance	Autosomal recessive nonsyndromic hearing loss 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.
Illumina Laboratory Services, Illumina	RCV001004772	SCV001322911	uncertain significance	Pendred syndrome	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.
Fulgent Genetics, Fulgent Genetics	RCV002496565	SCV002810617	benign	Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036495	SCV000060150	uncertain significance	not specified	2008-04-18	no assertion criteria provided	clinical testing