ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)

gnomAD frequency: 0.00064  dbSNP: rs139480342
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195045 SCV000248112 uncertain significance not specified 2015-03-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127113 SCV001286394 uncertain significance Distal arthrogryposis type 2B1 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522905 SCV001732538 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005396572 SCV006054978 uncertain significance Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B 2020-08-25 criteria provided, single submitter research
Yale Center for Mendelian Genomics, Yale University RCV000662290 SCV000784618 likely pathogenic Rhabdomyolysis 2017-08-05 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004541247 SCV004767198 likely benign MYH3-related disorder 2019-07-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Center for Computational Biology & Bioinformatics, University of California, San Diego RCV004567395 SCV005050037 uncertain significance Meniere disease 2024-06-03 no assertion criteria provided research

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