ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)

gnomAD frequency: 0.00009  dbSNP: rs149242794
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292216 SCV000453116 likely benign Marinesco-Sjögren syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516209 SCV000615273 likely benign not specified 2021-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000516209 SCV000729990 benign not specified 2017-09-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000292216 SCV001014622 benign Marinesco-Sjögren syndrome 2024-01-19 criteria provided, single submitter clinical testing
Mendelics RCV000292216 SCV001136982 likely benign Marinesco-Sjögren syndrome 2019-05-28 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258232 SCV001435138 benign X-linked intellectual disability-short stature-overweight syndrome criteria provided, single submitter research The homozygous p.Arg92Trp variant in SIL1 has been identified in 6 Pakistani relatives from 1 family with Marinesco-Sjogren syndrome (PMID: 19471582), but has also been identified in >3% of South Asian chromosomes and 14 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive Marinesco-Sjogren syndrome.
Fulgent Genetics, Fulgent Genetics RCV000292216 SCV002801206 likely benign Marinesco-Sjögren syndrome 2022-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437116 SCV004164224 benign not provided 2022-11-01 criteria provided, single submitter clinical testing SIL1: BS1, BS2

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