ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819916 SCV000960603 uncertain significance Marinesco-Sjögren syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 215 of the SIL1 protein (p.Gln215Arg). This variant is present in population databases (rs758955215, gnomAD 0.04%). 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: 662306). 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. 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.
Revvity Omics, Revvity RCV000819916 SCV003823266 uncertain significance Marinesco-Sjögren syndrome 2021-12-17 criteria provided, single submitter clinical testing

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