ClinVar Miner

Submissions for variant NM_001360.3(DHCR7):c.658A>G (p.Met220Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003075943 SCV003473948 uncertain significance Smith-Lemli-Opitz syndrome 2022-05-24 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 220 of the DHCR7 protein (p.Met220Val). This variant is present in population databases (rs200659923, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DHCR7-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DHCR7 protein function. 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.
Ambry Genetics RCV004614346 SCV005109466 uncertain significance Inborn genetic diseases 2024-03-29 criteria provided, single submitter clinical testing The c.658A>G (p.M220V) alteration is located in exon 7 (coding exon 5) of the DHCR7 gene. This alteration results from a A to G substitution at nucleotide position 658, causing the methionine (M) at amino acid position 220 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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