ClinVar Miner

Submissions for variant NM_001320714.2(DOP1B):c.4124A>T (p.His1375Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004267231 SCV003897917 uncertain significance not specified 2023-01-20 criteria provided, single submitter clinical testing The c.4124A>T (p.H1375L) alteration is located in exon 19 (coding exon 18) of the DOPEY2 gene. This alteration results from a A to T substitution at nucleotide position 4124, causing the histidine (H) at amino acid position 1375 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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