ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe)

dbSNP: rs1223603615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674760 SCV000800153 uncertain significance Smith-Lemli-Opitz syndrome 2018-05-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155278 SCV003844703 uncertain significance not specified 2024-03-20 criteria provided, single submitter clinical testing Variant summary: DHCR7 c.532A>T (p.Ile178Phe) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 250988 control chromosomes (gnomAD). c.532A>T has been reported in the literature in the compound heterozygous state in individuals affected with Smith-Lemli-Opitz Syndrome (e.g. Haas_2005, Witsch-Baumgartner_2005). 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: 15776424, 16435228). ClinVar contains an entry for this variant (Variation ID: 558484). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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