ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala)

dbSNP: rs894958571
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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 RCV001523035 SCV001732684 benign Intellectual disability, autosomal dominant 1 2023-07-17 criteria provided, single submitter clinical testing
GeneDx RCV001581175 SCV001811778 uncertain significance not provided 2021-02-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004988663 SCV005618159 uncertain significance Inborn genetic diseases 2024-11-08 criteria provided, single submitter clinical testing The c.2416T>G (p.S806A) alteration is located in exon 9 (coding exon 4) of the MBD5 gene. This alteration results from a T to G substitution at nucleotide position 2416, causing the serine (S) at amino acid position 806 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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