ClinVar Miner

Submissions for variant NM_001922.5(DCT):c.212G>A (p.Trp71Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004579630 SCV005062116 pathogenic Oculocutaneous albinism type 8 2024-03-05 criteria provided, single submitter clinical testing Variant summary: DCT c.212G>A (p.Trp71X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 251354 control chromosomes. To our knowledge, no occurrence of c.212G>A in individuals affected with Oculocutaneous Albinism Type 8 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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