ClinVar Miner

Submissions for variant NM_001041.4(SI):c.5110C>T (p.Arg1704Ter)

gnomAD frequency: 0.00004  dbSNP: rs779803851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255674 SCV000322611 pathogenic not provided 2023-02-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously reported as pathogenic or benign germline variant in association with an SI-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 23525077, 31589614, 26168399)
Labcorp Genetics (formerly Invitae), Labcorp RCV000255674 SCV002160089 pathogenic not provided 2020-12-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SI-related conditions. ClinVar contains an entry for this variant (Variation ID: 265618). This sequence change creates a premature translational stop signal (p.Arg1704*) in the SI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SI are known to be pathogenic (PMID: 16329100, 23103650, 25452324). This variant is present in population databases (rs779803851, ExAC 0.01%). For these reasons, this variant has been classified as Pathogenic.

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