ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1803C>A (p.Asn601Lys)

gnomAD frequency: 0.00002  dbSNP: rs1327960422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053484 SCV001217749 uncertain significance Dilated cardiomyopathy 1KK 2022-03-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 849502). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 601 of the MYPN protein (p.Asn601Lys).

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