ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro)

gnomAD frequency: 0.00004  dbSNP: rs563414935
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516420 SCV000615267 uncertain significance not provided 2020-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527526 SCV002978427 uncertain significance Marinesco-Sjögren syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 363 of the SIL1 protein (p.Gln363Pro). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 448381). 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"). 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 RCV002527527 SCV003547968 uncertain significance Inborn genetic diseases 2021-04-28 criteria provided, single submitter clinical testing The c.1088A>C (p.Q363P) alteration is located in exon 10 (coding exon 9) of the SIL1 gene. This alteration results from a A to C substitution at nucleotide position 1088, causing the glutamine (Q) at amino acid position 363 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002527526 SCV004237290 uncertain significance Marinesco-Sjögren syndrome 2023-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000516420 SCV005396426 uncertain significance not provided 2024-05-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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