ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1550C>A (p.Ala517Glu)

gnomAD frequency: 0.00001  dbSNP: rs1052323892
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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 RCV001314181 SCV001504706 uncertain significance Dilated cardiomyopathy 1KK 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 517 of the MYPN protein (p.Ala517Glu). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 1015332). 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. 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.
AiLife Diagnostics, AiLife Diagnostics RCV002224057 SCV002502548 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402879 SCV002704840 uncertain significance Cardiovascular phenotype 2019-04-17 criteria provided, single submitter clinical testing The p.A517E variant (also known as c.1550C>A), located in coding exon 8 of the MYPN gene, results from a C to A substitution at nucleotide position 1550. The alanine at codon 517 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002224057 SCV003810985 uncertain significance not provided 2021-06-21 criteria provided, single submitter clinical testing

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