ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3593T>C (p.Met1198Thr)

gnomAD frequency: 0.00001  dbSNP: rs755560876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620452 SCV000736412 uncertain significance Cardiovascular phenotype 2022-12-04 criteria provided, single submitter clinical testing The p.M1198T variant (also known as c.3593T>C), located in coding exon 17 of the MYPN gene, results from a T to C substitution at nucleotide position 3593. The methionine at codon 1198 is replaced by threonine, an amino acid with similar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001060424 SCV001225111 uncertain significance Dilated cardiomyopathy 1KK 2019-04-24 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. 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"). This variant has not been reported in the literature in individuals with MYPN-related conditions. ClinVar contains an entry for this variant (Variation ID: 518851). This variant is present in population databases (rs755560876, ExAC 0.009%). This sequence change replaces methionine with threonine at codon 1198 of the MYPN protein (p.Met1198Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine.
Mayo Clinic Laboratories, Mayo Clinic RCV004791628 SCV005411017 uncertain significance not provided 2024-03-20 criteria provided, single submitter clinical testing

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