ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.3934G>T (p.Gly1312Cys)

dbSNP: rs1172686822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302997 SCV001492227 uncertain significance Intellectual disability, autosomal dominant 1 2020-04-23 criteria provided, single submitter clinical testing 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. This sequence change replaces glycine with cysteine at codon 1079 of the MBD5 protein (p.Gly1079Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MBD5-related conditions.
Ambry Genetics RCV004987046 SCV005618163 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The c.3235G>T (p.G1079C) alteration is located in exon 12 (coding exon 7) of the MBD5 gene. This alteration results from a G to T substitution at nucleotide position 3235, causing the glycine (G) at amino acid position 1079 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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