ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)

gnomAD frequency: 0.00073  dbSNP: rs73265454
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202671 SCV000257751 uncertain significance not specified 2015-07-17 criteria provided, single submitter clinical testing
Invitae RCV000872718 SCV001014575 likely benign Marinesco-Sjögren syndrome 2024-01-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000872718 SCV003823258 uncertain significance Marinesco-Sjögren syndrome 2023-01-27 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000872718 SCV001550814 uncertain significance Marinesco-Sjögren syndrome no assertion criteria provided clinical testing The SIL1 p.E347K variant was not identified in the literature but was identified in dbSNP (ID: rs73265454) and ClinVar (classified as likely benign by Invitae and as uncertain significance by Children's Hospital of Philadelphia). The variant was identified in control databases in 69 of 276370 chromosomes at a frequency of 0.0002497, and was observed at the highest frequency in the African population in 65 of 24724 chromosomes (freq: 0.002629) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.E347 residue is conserved in mammals however computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) do not suggest a high likelihood of impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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