ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.1722C>T (p.Ala574=)

gnomAD frequency: 0.00002  dbSNP: rs373381680
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Total submissions: 5
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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 RCV000220323 SCV000270465 likely benign not specified 2015-11-25 criteria provided, single submitter clinical testing p.Ala574Ala in exon 14 of MYH9: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/66720 European c hromosomes and in 2/11578 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs373381680).
Illumina Laboratory Services, Illumina RCV001148194 SCV001309076 uncertain significance Autosomal dominant nonsyndromic hearing loss 17 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001148195 SCV001309077 likely benign MYH9-related disorder 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV002519609 SCV002934238 likely benign not provided 2023-11-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002519609 SCV004147808 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing MYH9: BP4, BP7

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