ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1012G>A (p.Val338Met) (rs72954276)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717914 SCV000848774 uncertain significance History of neurodevelopmental disorder 2018-01-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079638 SCV000111521 likely benign not specified 2018-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000585931 SCV000981133 likely benign not provided 2018-05-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000585931 SCV000697850 uncertain significance not provided 2016-09-26 criteria provided, single submitter clinical testing Variant summary: The DHCR7 c.1012G>A (p.Val338Met) variant involves the alteration of a non-conserved nucleotide. 3/3 in silico tools predict a benign outcome for this variant. This variant was found in 99/113632 control chromosomes at a frequency of 0.0008712, which does not exceed the estimated maximal expected allele frequency of a pathogenic DHCR7 variant (0.0043301). In addition, one clinical diagnostic laboratory has classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000633530 SCV000754776 likely benign Smith-Lemli-Opitz syndrome 2017-12-04 criteria provided, single submitter clinical testing

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