ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)

gnomAD frequency: 0.00001  dbSNP: rs119456965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000002743 SCV002021258 pathogenic Marinesco-Sjögren syndrome 2019-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000002743 SCV003000567 pathogenic Marinesco-Sjögren syndrome 2024-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg111*) in the SIL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SIL1 are known to be pathogenic (PMID: 16282977, 24176978). This variant is present in population databases (rs119456965, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Marinesco-Sjogren syndrome (PMID: 16282977, 21873089). ClinVar contains an entry for this variant (Variation ID: 2625). For these reasons, this variant has been classified as Pathogenic.
3billion RCV000002743 SCV005905962 pathogenic Marinesco-Sjögren syndrome 2023-06-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000002625 /PMID: 16282977). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000002743 SCV000022901 pathogenic Marinesco-Sjögren syndrome 2007-03-01 no assertion criteria provided literature only

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