ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4697A>G (p.Tyr1566Cys)

gnomAD frequency: 0.00003  dbSNP: rs373234696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058732 SCV001223323 uncertain significance Intellectual disability, autosomal dominant 1 2024-07-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1333 of the MBD5 protein (p.Tyr1333Cys). This variant is present in population databases (rs373234696, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 853835). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001585959 SCV001819606 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031853 SCV004902885 likely benign Inborn genetic diseases 2023-12-13 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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