ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)

gnomAD frequency: 0.00001  dbSNP: rs368473756
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316093 SCV000847612 likely benign Inborn genetic diseases 2019-03-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000728546 SCV000856137 benign not specified 2017-07-31 criteria provided, single submitter clinical testing
Invitae RCV000882330 SCV001025562 benign Smith-Lemli-Opitz syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000882330 SCV001270543 uncertain significance Smith-Lemli-Opitz syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001672935 SCV001884550 benign not provided 2020-12-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26350204)
Natera, Inc. RCV000882330 SCV002093069 likely benign Smith-Lemli-Opitz syndrome 2018-04-02 no assertion criteria provided clinical testing

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