ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1961A>T (p.Asp654Val)

gnomAD frequency: 0.00029  dbSNP: rs115495710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705024 SCV000241691 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17847001)
Labcorp Genetics (formerly Invitae), Labcorp RCV000645285 SCV000767027 likely benign Intellectual disability, autosomal dominant 1 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004639167 SCV005130304 likely benign Inborn genetic diseases 2024-05-15 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.

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