ClinVar Miner

Submissions for variant NM_001168408.2(RIMS1):c.1741+15320C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356663 SCV001551893 uncertain significance not provided no assertion criteria provided clinical testing The RIMS1 p.S1320F variant was not identified in the literature nor was it identified in ClinVar. The variant was identified in dbSNP (ID: rs140943787) and in control databases in 24 of 244486 chromosomes at a frequency of 0.00009817, and was observed at the highest frequency in the African population in 15 of 21646 chromosomes (freq: 0.0006930) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.S1320 residue is conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) provide inconsistent predictions regarding the 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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