ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) (rs397515884)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035367 SCV000059015 uncertain significance not specified 2019-08-02 criteria provided, single submitter clinical testing The p.Gly347Ser variant in MYBPC3 has been identified in 1 individual with DCM (LMM data) and 3/112736 European chromosomes by gnomAD ( Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.
Invitae RCV001344496 SCV001538554 uncertain significance Hypertrophic cardiomyopathy 2020-06-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 347 of the MYBPC3 protein (p.Gly347Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs397515884, ExAC 0.003%). This variant has not been reported in the literature in individuals with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 42502). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Blueprint Genetics RCV000157306 SCV000207038 likely pathogenic Primary familial hypertrophic cardiomyopathy 2014-05-22 no assertion criteria provided clinical testing

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