ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3935G>A (p.Arg1312Gln)

gnomAD frequency: 0.00011  dbSNP: rs761812034
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242926 SCV000320088 uncertain significance Cardiovascular phenotype 2024-02-28 criteria provided, single submitter clinical testing The c.3935G>A (p.R1312Q) alteration is located in exon 20 (coding exon 19) of the MYPN gene. This alteration results from a G to A substitution at nucleotide position 3935, causing the arginine (R) at amino acid position 1312 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000469170 SCV000553459 uncertain significance Dilated cardiomyopathy 1KK 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1312 of the MYPN protein (p.Arg1312Gln). This variant is present in population databases (rs761812034, gnomAD 0.008%). 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: 264277). 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 glutamine 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000624494 SCV000740643 uncertain significance not specified 2017-06-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692880 SCV005190786 uncertain significance not provided criteria provided, single submitter not provided

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