ClinVar Miner

Submissions for variant NM_015846.4(MBD1):c.1304C>T (p.Thr435Ile)

gnomAD frequency: 0.00035  dbSNP: rs116201949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824217 SCV002073832 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV001824217 SCV003566435 uncertain significance not specified 2021-07-09 criteria provided, single submitter clinical testing The c.1304C>T (p.T435I) alteration is located in exon 12 (coding exon 11) of the MBD1 gene. This alteration results from a C to T substitution at nucleotide position 1304, causing the threonine (T) at amino acid position 435 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004710386 SCV005250802 benign not provided criteria provided, single submitter not provided

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