ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys)

gnomAD frequency: 0.00424  dbSNP: rs146461956
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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 RCV000038309 SCV000061978 benign not specified 2015-05-21 criteria provided, single submitter clinical testing Tyr1275Cys in Exon 35 of MYO6: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (622/116228) of chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP db SNP rs146461956).
Eurofins Ntd Llc (ga) RCV000038309 SCV000229791 benign not specified 2015-05-06 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000038309 SCV000258010 likely benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346796 SCV000465420 benign Autosomal dominant nonsyndromic hearing loss 22 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000401418 SCV000465421 uncertain significance Autosomal recessive nonsyndromic hearing loss 37 2018-01-13 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 RCV000873544 SCV000729219 benign not provided 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000873544 SCV001015552 benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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