ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.13_14del (p.Ser5fs)

dbSNP: rs761112550
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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 RCV001958711 SCV002240200 pathogenic Leber congenital amaurosis 12 2021-11-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RD3-related conditions. This variant is present in population databases (rs761112550, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser5Metfs*18) in the RD3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RD3 are known to be pathogenic (PMID: 23308101).
GeneDx RCV004591665 SCV005079632 likely pathogenic not provided 2024-01-07 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 a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously reported as pathogenic or benign in association with RD3-related disorders to our knowledge; This variant is associated with the following publications: (PMID: 31964843)

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