ClinVar Miner

Submissions for variant NM_015426.5(POC1A):c.253G>C (p.Val85Leu)

gnomAD frequency: 0.00024  dbSNP: rs112213336
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824869 SCV000965773 likely pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 2015-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869260 SCV002116041 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702466 SCV005202248 uncertain significance not specified 2024-07-29 criteria provided, single submitter clinical testing Variant summary: POC1A c.253G>C (p.Val85Leu) results in a 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 variant allele was found at a frequency of 0.00024 in 250676 control chromosomes (gnomAD). This frequency is not significantly higher than estimated for a pathogenic variant in POC1A causing Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, allowing no conclusion about variant significance. c.253G>C has been reported in the literature in a homozygous individual affected with Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Nambot_2018). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 26374189, 29095811). ClinVar contains an entry for this variant (Variation ID: 666330). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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