ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1750A>G (p.Met584Val)

gnomAD frequency: 0.00001  dbSNP: rs1694331950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313412 SCV001503908 uncertain significance Schimke immuno-osseous dysplasia 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 584 of the SMARCAL1 protein (p.Met584Val). This variant is not present in population databases (gnomAD no frequency). 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: 1014651). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV001313412 SCV002788184 uncertain significance Schimke immuno-osseous dysplasia 2022-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543627 SCV003595687 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.1750A>G (p.M584V) alteration is located in exon 11 (coding exon 9) of the SMARCAL1 gene. This alteration results from a A to G substitution at nucleotide position 1750, causing the methionine (M) at amino acid position 584 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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