ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)

gnomAD frequency: 0.00001  dbSNP: rs768569356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793908 SCV000933287 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2023-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 640804). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 not expected to disrupt MORC2 protein function. This variant has not been reported in the literature in individuals affected with MORC2-related conditions. This variant is present in population databases (rs768569356, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 926 of the MORC2 protein (p.Ser926Gly).
Baylor Genetics RCV000793908 SCV001526632 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2018-05-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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