ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1775C>T (p.Thr592Met)

gnomAD frequency: 0.00004  dbSNP: rs199876834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001277348 SCV002142694 uncertain significance Schimke immuno-osseous dysplasia 2021-12-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 592 of the SMARCAL1 protein (p.Thr592Met). This variant is present in population databases (rs199876834, gnomAD 0.01%). 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: 989501). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV001277348 SCV002792966 uncertain significance Schimke immuno-osseous dysplasia 2021-08-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277348 SCV001464292 uncertain significance Schimke immuno-osseous dysplasia 2020-09-04 no assertion criteria provided clinical testing

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