ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.518T>A (p.Ile173Asn)

dbSNP: rs2042249791
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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 RCV002006999 SCV002294413 uncertain significance Dilated cardiomyopathy 1KK 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 173 of the MYPN protein (p.Ile173Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Ambry Genetics RCV003382804 SCV004088547 uncertain significance Cardiovascular phenotype 2023-07-18 criteria provided, single submitter clinical testing The p.I173N variant (also known as c.518T>A), located in coding exon 1 of the MYPN gene, results from a T to A substitution at nucleotide position 518. The isoleucine at codon 173 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003402049 SCV004112023 uncertain significance MYPN-related disorder 2023-02-02 criteria provided, single submitter clinical testing The MYPN c.518T>A variant is predicted to result in the amino acid substitution p.Ile173Asn. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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