ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.1238G>A (p.Arg413His)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329281 SCV001520675 uncertain significance Marinesco-Sjögren syndrome 2019-04-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001329281 SCV002152638 uncertain significance Marinesco-Sjögren syndrome 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 413 of the SIL1 protein (p.Arg413His). This variant is present in population databases (rs138448654, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with SIL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1028266). 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 histidine 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.
Athena Diagnostics Inc RCV002473271 SCV002771222 uncertain significance not provided 2022-03-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001329281 SCV003823224 uncertain significance Marinesco-Sjögren syndrome 2021-05-10 criteria provided, single submitter clinical testing

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