ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2171T>A (p.Ile724Asn)

dbSNP: rs397516136
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Total submissions: 2
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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 RCV000035774 SCV000059425 uncertain significance not specified 2014-01-19 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
3billion RCV003152673 SCV003841416 likely pathogenic Dilated cardiomyopathy 1S 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PMID: 29300372). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.88; 3Cnet: 1.00). Same nucleotide change resulting in same amino acid change (PMID: 24503780) and Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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