ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061648 SCV001226397 uncertain significance Smith-Lemli-Opitz syndrome 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 344 of the DHCR7 protein (p.Gly344Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with holoprosencephaly (PMID: 15013448). This variant has been reported to affect DHCR7 protein function (PMID: 15013448). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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