ClinVar Miner

Submissions for variant NM_015189.3(EXOC6B):c.946del (p.Arg316fs)

dbSNP: rs2105685436
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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 RCV002006372 SCV002270683 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1487322). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EXOC6B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg316Glufs*22) in the EXOC6B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXOC6B are known to be pathogenic (PMID: 26669664, 36150098).
GeneDx RCV002006372 SCV003798726 uncertain significance not provided 2022-01-18 criteria provided, single submitter clinical testing 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; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)

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