ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4474A>C (p.Ile1492Leu)

dbSNP: rs370231736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318771 SCV000850140 uncertain significance Inborn genetic diseases 2023-11-07 criteria provided, single submitter clinical testing The c.3775A>C (p.I1259L) alteration is located in exon 12 (coding exon 7) of the MBD5 gene. This alteration results from a A to C substitution at nucleotide position 3775, causing the isoleucine (I) at amino acid position 1259 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001305182 SCV001494505 uncertain significance Intellectual disability, autosomal dominant 1 2021-09-01 criteria provided, single submitter clinical testing

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