ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3628G>A (p.Glu1210Lys)

gnomAD frequency: 0.00002  dbSNP: rs779000111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317904 SCV001508584 uncertain significance Dilated cardiomyopathy 1KK 2023-05-23 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1018577). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is present in population databases (rs779000111, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1210 of the MYPN protein (p.Glu1210Lys).
Ambry Genetics RCV004651574 SCV005146186 uncertain significance Cardiovascular phenotype 2024-04-15 criteria provided, single submitter clinical testing The p.E1210K variant (also known as c.3628G>A), located in coding exon 17 of the MYPN gene, results from a G to A substitution at nucleotide position 3628. The glutamic acid at codon 1210 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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