ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter)

dbSNP: rs1694125419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001207503 SCV001366480 pathogenic Schimke immuno-osseous dysplasia 2019-01-27 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV001207503 SCV001378860 pathogenic Schimke immuno-osseous dysplasia 2021-05-07 criteria provided, single submitter clinical testing Loss-of-function variants in SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg563*) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMARCAL1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV001207503 SCV002810471 likely pathogenic Schimke immuno-osseous dysplasia 2024-03-07 criteria provided, single submitter clinical testing

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