ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.1642A>G (p.Ile548Val)

gnomAD frequency: 0.00001  dbSNP: rs781453232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245584 SCV001418881 uncertain significance Schimke immuno-osseous dysplasia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 548 of the SMARCAL1 protein (p.Ile548Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs781453232, ExAC 0.001%). 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 valine 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.
Ambry Genetics RCV003294145 SCV003988729 uncertain significance Inborn genetic diseases 2023-06-05 criteria provided, single submitter clinical testing The c.1642A>G (p.I548V) alteration is located in exon 9 (coding exon 7) of the SMARCAL1 gene. This alteration results from a A to G substitution at nucleotide position 1642, causing the isoleucine (I) at amino acid position 548 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001245584 SCV002076310 uncertain significance Schimke immuno-osseous dysplasia 2020-07-05 no assertion criteria provided clinical testing

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