ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)

gnomAD frequency: 0.00001  dbSNP: rs727504993
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156412 SCV000206130 likely benign not specified 2014-07-14 criteria provided, single submitter clinical testing Leu350Leu in exon 9 of SLC26A4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence.
Illumina Laboratory Services, Illumina RCV000305265 SCV000466092 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 RCV000362271 SCV000466093 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000958954 SCV001105839 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000305265 SCV002027095 likely benign Autosomal recessive nonsyndromic hearing loss 4 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000362271 SCV002027106 likely benign Pendred syndrome 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000362271 SCV001459865 uncertain significance Pendred syndrome 2020-04-16 no assertion criteria provided clinical testing

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