ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu)

gnomAD frequency: 0.00009  dbSNP: rs201245117
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Total submissions: 5
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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 RCV000172075 SCV000051025 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000603296 SCV000711613 likely benign not specified 2017-05-19 criteria provided, single submitter clinical testing p.Ile754Leu in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 0.30% (57/18866) of East Asian chro mosomes by the genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org/; dbSNP rs201245117). This variant also has a lack of conservation across s pecies, including mammals. Of note, brush tailed-rat, pika, and shrew have a leu cine (Leu) at this position despite high nearby amino acid conservation. In addi tion, computational prediction tools do not suggest a high likelihood of impact to the protein.
Ambry Genetics RCV000618169 SCV000735506 likely benign Cardiovascular phenotype 2019-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088087 SCV000776977 likely benign Dilated cardiomyopathy 1KK 2024-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748619 SCV005346717 likely benign MYPN-related disorder 2024-05-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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