ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val)

gnomAD frequency: 0.00028  dbSNP: rs115940994
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126697 SCV000170207 benign not specified 2014-03-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087274 SCV000557168 benign Intellectual disability, autosomal dominant 1 2025-01-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513756 SCV000611023 likely benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321611 SCV002605771 benign Inborn genetic diseases 2017-08-07 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV000513756 SCV005255805 likely benign not provided criteria provided, single submitter not provided

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