ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4112G>A (p.Ser1371Asn)

gnomAD frequency: 0.00001  dbSNP: rs1037868450
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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 RCV001327577 SCV001518658 uncertain significance Intellectual disability, autosomal dominant 1 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1138 of the MBD5 protein (p.Ser1138Asn). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1027037). 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.

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