ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)

gnomAD frequency: 0.00008  dbSNP: rs201983087
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208333 SCV000264119 uncertain significance Left ventricular noncompaction cardiomyopathy 2015-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618176 SCV000739981 uncertain significance Cardiovascular phenotype 2024-10-12 criteria provided, single submitter clinical testing The c.757G>C (p.G253R) alteration is located in exon 2 (coding exon 1) of the MYPN gene. This alteration results from a G to C substitution at nucleotide position 757, causing the glycine (G) at amino acid position 253 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000691793 SCV000819584 uncertain significance Dilated cardiomyopathy 1KK 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 253 of the MYPN protein (p.Gly253Arg). This variant is present in population databases (rs201983087, 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: 222748). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV001589099 SCV001816421 uncertain significance not provided 2019-07-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002485363 SCV002777184 uncertain significance Dilated cardiomyopathy 1KK; MYPN-related myopathy 2021-08-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001589099 SCV003799340 uncertain significance not provided 2022-04-27 criteria provided, single submitter clinical testing The MYPN c.757G>C; p.Gly253Arg variant (rs201983087), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 222748). This variant is found in the non-Finnish European population with an allele frequency of 0.011% (14/127,482 alleles) in the Genome Aggregation Database. The glycine at codon 253 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.11). Due to limited information, the clinical significance of the p.Gly253Arg variant is uncertain at this time.

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