ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2534T>A (p.Leu845Gln)

gnomAD frequency: 0.00003  dbSNP: rs372298863
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242582 SCV001415678 uncertain significance Schimke immuno-osseous dysplasia 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 845 of the SMARCAL1 protein (p.Leu845Gln). This variant is present in population databases (rs372298863, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 967622). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001242582 SCV002790468 uncertain significance Schimke immuno-osseous dysplasia 2021-12-04 criteria provided, single submitter clinical testing
3billion RCV001242582 SCV005328585 likely benign Schimke immuno-osseous dysplasia 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Ambry Genetics RCV005269016 SCV005947377 likely benign Inborn genetic diseases 2025-02-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001242582 SCV002076334 uncertain significance Schimke immuno-osseous dysplasia 2020-01-17 no assertion criteria provided clinical testing

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