ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.360T>A (p.Asp120Glu)

dbSNP: rs794729068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183565 SCV000236034 likely benign not specified 2014-08-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV003380508 SCV004098528 uncertain significance Cardiovascular phenotype 2023-09-05 criteria provided, single submitter clinical testing The p.D120E variant (also known as c.360T>A), located in coding exon 1 of the MYPN gene, results from a T to A substitution at nucleotide position 360. The aspartic acid at codon 120 is replaced by glutamic acid, an amino acid with highly 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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