ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.281C>G (p.Thr94Ser)

gnomAD frequency: 0.00002  dbSNP: rs377389861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852607 SCV000995310 likely benign Long QT syndrome 2018-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001222605 SCV001394713 uncertain significance Dilated cardiomyopathy 1KK 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 94 of the MYPN protein (p.Thr94Ser). This variant is present in population databases (rs377389861, 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: 691722). 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 serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002434051 SCV002746642 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The p.T94S variant (also known as c.281C>G), located in coding exon 1 of the MYPN gene, results from a C to G substitution at nucleotide position 281. The threonine at codon 94 is replaced by serine, an amino acid with 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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