ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.519T>G (p.Ile173Met)

gnomAD frequency: 0.00003  dbSNP: rs769771296
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359521 SCV001555395 uncertain significance Dilated cardiomyopathy 1KK 2020-03-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 173 of the MYPN protein (p.Ile173Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs769771296, ExAC 0.01%). This variant has not been reported in the literature in individuals with MYPN-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004034533 SCV003957116 uncertain significance Cardiovascular phenotype 2023-03-22 criteria provided, single submitter clinical testing The c.519T>G (p.I173M) alteration is located in exon 2 (coding exon 1) of the MYPN gene. This alteration results from a T to G substitution at nucleotide position 519, causing the isoleucine (I) at amino acid position 173 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697120 SCV005199448 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing

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