ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.415_416del (p.Leu139fs) (rs781023326)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000735045 SCV000863233 pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing
Invitae RCV001035667 SCV001199001 pathogenic Schimke immuno-osseous dysplasia 2020-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu139Glufs*3) in the SMARCAL1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781023326, ExAC 0.003%). This variant has been observed in individual(s) with focal segmental glomerulosclerosis (PMID: 28780565). ClinVar contains an entry for this variant (Variation ID: 598612). Loss-of-function variants in SMARCAL1 are known to be pathogenic (PMID: 11799392, 20301550). For these reasons, this variant has been classified as Pathogenic.

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