ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) (rs202156491)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507445 SCV000605059 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2019-07-22 criteria provided, single submitter clinical testing The SBF1 c.3157C>T; p.Arg1053Trp variant (rs202156491) is reported in the literature without association to disease in a family studied by exome sequencing (Corpas 2015). This variant is reported in ClinVar (Variation ID: 440252) and is found in the Ashkenazi Jewish population with an overall allele frequency of 1.5% (143/9846 alleles) in the Genome Aggregation Database. The arginine at codon 1053 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Arg1053Trp variant is uncertain at this time. References: Corpas M et al. Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics. 2015 Nov 7;16:910.
Invitae RCV000885103 SCV001028529 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000885103 SCV001755845 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26547235)

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