ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1859dup (p.Val621fs)

dbSNP: rs1569190645
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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 RCV000699209 SCV000827909 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2018-03-06 criteria provided, single submitter clinical testing 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MORC2 cause disease. This variant has not been reported in the literature in individuals with MORC2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val559Cysfs*16) in the MORC2 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV005253080 SCV005906619 uncertain significance not provided 2024-10-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease

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