ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.392G>T (p.Ser131Ile)

gnomAD frequency: 0.00016  dbSNP: rs199853307
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172069 SCV000051411 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000620576 SCV000736781 likely benign Cardiovascular phenotype 2019-04-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001089420 SCV000776984 likely benign Dilated cardiomyopathy 1KK 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000172069 SCV001826089 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar with conflicting classifications ranging from likely benign to uncertain significance (ClinVar Variant ID#191747; Landrum et al., 2016)

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