ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr)

gnomAD frequency: 0.00001  dbSNP: rs1422887607
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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 RCV001415601 SCV001617762 likely benign Intellectual disability, autosomal dominant 1 2020-10-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001415601 SCV003808309 uncertain significance Intellectual disability, autosomal dominant 1 2020-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988623 SCV005618157 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.1663C>A (p.P555T) alteration is located in exon 9 (coding exon 4) of the MBD5 gene. This alteration results from a C to A substitution at nucleotide position 1663, causing the proline (P) at amino acid position 555 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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