ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter)

dbSNP: rs119473034
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000004389 SCV001227026 pathogenic Schimke immuno-osseous dysplasia 2024-02-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg17*) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550). This variant is present in population databases (rs119473034, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Schimke immuno-osseous dysplasia (PMID: 11799392). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 4172). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000004389 SCV002791511 pathogenic Schimke immuno-osseous dysplasia 2021-12-06 criteria provided, single submitter clinical testing
OMIM RCV000004389 SCV000024561 pathogenic Schimke immuno-osseous dysplasia 2002-02-01 no assertion criteria provided literature only
Natera, Inc. RCV000004389 SCV002076271 pathogenic Schimke immuno-osseous dysplasia 2021-05-04 no assertion criteria provided clinical testing

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