ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4457A>C (p.Asn1486Thr)

dbSNP: rs1681475025
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001306897 SCV001496284 uncertain significance Intellectual disability, autosomal dominant 1 2020-02-12 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 variant has not been reported in the literature in individuals with MBD5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with threonine at codon 1253 of the MBD5 protein (p.Asn1253Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine.

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