ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.465C>G (p.Ala155=)

gnomAD frequency: 0.00099  dbSNP: rs142867001
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082149 SCV000563299 benign Dilated cardiomyopathy 1KK 2024-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615450 SCV000711701 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing p.Ala155Ala in exon 3 of MYPN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.3% (72/24018) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org/; dbSNP rs142867001).
Ambry Genetics RCV000618951 SCV000737198 likely benign Cardiovascular phenotype 2016-05-31 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.
GeneDx RCV000024518 SCV001896897 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003914863 SCV004737679 likely benign MYPN-related disorder 2019-10-28 criteria provided, single submitter 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).
Leiden Muscular Dystrophy (MYPN) RCV000024518 SCV000045822 not provided not provided 2012-04-27 no assertion provided curation

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