ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser)

dbSNP: rs1681472341
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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 RCV001049279 SCV001213324 uncertain significance Intellectual disability, autosomal dominant 1 2019-02-18 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1233 of the MBD5 protein (p.Asn1233Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. 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. 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001049279 SCV001366964 uncertain significance Intellectual disability, autosomal dominant 1 2019-10-03 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Ambry Genetics RCV004629422 SCV005130314 uncertain significance Inborn genetic diseases 2024-05-12 criteria provided, single submitter clinical testing The c.3698A>G (p.N1233S) alteration is located in exon 12 (coding exon 7) of the MBD5 gene. This alteration results from a A to G substitution at nucleotide position 3698, causing the asparagine (N) at amino acid position 1233 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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