ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2354T>A (p.Leu785His)

dbSNP: rs758614811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978974 SCV002217741 uncertain significance Dilated cardiomyopathy 1KK 2021-04-21 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MYPN-related conditions. This variant is present in population databases (rs758614811, ExAC 0.006%). This sequence change replaces leucine with histidine at codon 785 of the MYPN protein (p.Leu785His). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and histidine.
Ambry Genetics RCV004651860 SCV005146221 uncertain significance Cardiovascular phenotype 2024-06-03 criteria provided, single submitter clinical testing The p.L785H variant (also known as c.2354T>A), located in coding exon 10 of the MYPN gene, results from a T to A substitution at nucleotide position 2354. The leucine at codon 785 is replaced by histidine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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