ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.553C>T (p.Pro185Ser)

gnomAD frequency: 0.00001  dbSNP: rs1265303129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372369 SCV001569013 uncertain significance Schimke immuno-osseous dysplasia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 185 of the SMARCAL1 protein (p.Pro185Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SMARCAL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001372369 SCV002775570 uncertain significance Schimke immuno-osseous dysplasia 2021-09-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001372369 SCV002076284 uncertain significance Schimke immuno-osseous dysplasia 2020-10-28 no assertion criteria provided clinical testing

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