ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.19A>G (p.Ser7Gly)

gnomAD frequency: 0.00001  dbSNP: rs1213563782
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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 RCV002653312 SCV002978142 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2022-03-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MORC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 7 of the MORC2 protein (p.Ser7Gly). 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 MORC2 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331384 SCV004038756 uncertain significance not specified 2023-08-21 criteria provided, single submitter clinical testing Variant summary: MORC2 c.19A>G (p.Ser7Gly) results in a non-conservative amino acid change in the encoded protein sequence. Two of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 153970 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.19A>G in individuals affected with Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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