ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4139G>A (p.Arg1380Gln)

gnomAD frequency: 0.00006  dbSNP: rs368605084
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721209 SCV000241741 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000802788 SCV000942631 likely benign Intellectual disability, autosomal dominant 1 2024-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721209 SCV004154087 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing MBD5: BP4
Ambry Genetics RCV004984739 SCV005618146 likely benign Inborn genetic diseases 2024-11-15 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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