ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu)

dbSNP: rs193022869
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436383 SCV000536339 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001062960 SCV001227786 uncertain significance Dilated cardiomyopathy 1KK 2022-05-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 919 of the MYPN protein (p.Arg919Leu). This variant is present in population databases (rs193022869, gnomAD 0.02%). 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: 392991). 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: "Tolerated"; 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 RCV002436360 SCV002749027 uncertain significance Cardiovascular phenotype 2024-05-16 criteria provided, single submitter clinical testing The c.2756G>T (p.R919L) alteration is located in exon 13 (coding exon 12) of the MYPN gene. This alteration results from a G to T substitution at nucleotide position 2756, causing the arginine (R) at amino acid position 919 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002488985 SCV002775601 uncertain significance Dilated cardiomyopathy 1KK; MYPN-related myopathy 2021-09-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000436383 SCV003810990 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing

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