ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1724A>G (p.Lys575Arg)

gnomAD frequency: 0.00003  dbSNP: rs1346961662
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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 RCV001367393 SCV001563741 uncertain significance Dilated cardiomyopathy 1KK 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 575 of the MYPN protein (p.Lys575Arg). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1058277). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003169868 SCV003912581 uncertain significance Cardiovascular phenotype 2022-12-16 criteria provided, single submitter clinical testing The p.K575R variant (also known as c.1724A>G), located in coding exon 9 of the MYPN gene, results from an A to G substitution at nucleotide position 1724. The lysine at codon 575 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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