ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs)

gnomAD frequency: 0.00001  dbSNP: rs956223874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386133 SCV001586259 pathogenic Schimke immuno-osseous dysplasia 2023-06-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1073209). For these reasons, this variant has been classified as Pathogenic. This variant is also known as L397fsX40. This premature translational stop signal has been observed in individual(s) with Schimke immunoosseous dysplasia (PMID: 11799392). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr399Argfs*38) 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).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252678 SCV002523613 pathogenic See cases 2020-03-27 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
Natera, Inc. RCV001386133 SCV002076299 pathogenic Schimke immuno-osseous dysplasia 2020-08-18 no assertion criteria provided clinical testing

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