ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)

gnomAD frequency: 0.00001  dbSNP: rs372297066
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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 RCV000821392 SCV000962147 likely benign Charcot-Marie-Tooth disease axonal type 2Z 2023-12-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824892 SCV002074183 uncertain significance not specified 2022-01-10 criteria provided, single submitter clinical testing Variant summary: MORC2 c.2650G>A (p.Ala884Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 5.2e-05 in 251370 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2650G>A 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. A ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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