ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2593C>T (p.Arg865Ter)

dbSNP: rs74315425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003486 SCV001220651 pathogenic Duane-radial ray syndrome 2022-12-02 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg865*) in the SALL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SALL4 are known to be pathogenic (PMID: 15342710, 16086360). This premature translational stop signal has been observed in individual(s) with Duane-radial ray syndrome (PMID: 12395297). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3322).
GeneDx RCV001553330 SCV001774183 likely pathogenic not provided 2019-11-06 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 843249, 20301547, 12395297, 25525159, 11826030, 12843316)
OMIM RCV000003486 SCV000023644 pathogenic Duane-radial ray syndrome 2002-11-01 no assertion criteria provided literature only

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