ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.1019T>C (p.Leu340Pro)

dbSNP: rs990867212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913100 SCV002175673 likely benign not provided 2024-11-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587242 SCV005076140 uncertain significance not specified 2024-04-15 criteria provided, single submitter clinical testing Variant summary: AHDC1 c.1019T>C (p.Leu340Pro) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.1019T>C in individuals affected with Xia-Gibbs Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1401761). Based on the evidence outlined above, the variant was classified as uncertain significance.

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