ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1445G>A (p.Arg482Lys)

dbSNP: rs773665854
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001974979 SCV002211820 uncertain significance Dilated cardiomyopathy 1KK 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 482 of the MYPN protein (p.Arg482Lys). This variant is present in population databases (rs773665854, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1439551). 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"). 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.
Ambry Genetics RCV002388900 SCV002699392 likely benign Cardiovascular phenotype 2021-09-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV003229907 SCV003927352 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing Reported in an individual with DCM (Shen et al., 2022); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35284542)
Mayo Clinic Laboratories, Mayo Clinic RCV003229907 SCV004225253 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing BS1

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