ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819916 SCV000960603 uncertain significance Marinesco-Sjögren syndrome 2018-10-04 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 215 of the SIL1 protein (p.Gln215Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs758955215, ExAC 0.05%). This variant has not been reported in the literature in individuals with SIL1-related disease. 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 C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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