ClinVar Miner

Submissions for variant NM_005068.3(SIM1):c.793_794del (p.Leu265fs)

dbSNP: rs2482134518
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468461 SCV002764335 likely pathogenic SIM1-associated metabolic syndrome 2021-08-13 criteria provided, single submitter clinical testing The frameshift c.793_794del, p.Leu265ValfsTer101 variant at exon 7 of 11 in the SIM1 gene has not been reported in the literature in individuals with SIM1-related disorders. This variant is absent from the gnomAD v3.1.1 database suggesting it is not a common benign variant in the populations represented in this database. This variant causes a frameshift by deleting two nucleotides, so it is predicted to result in a truncated protein or mRNA subject tononsense-mediated decay. Based on the available evidence, c.793_794del, p.Leu265ValfsTer101 variant in the SIM1 gene is classified as likely pathogenic.

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