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

gnomAD frequency: 0.00058  dbSNP: rs202156491

Total submissions: 4

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	2024-01-17	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)
PreventionGenetics, part of Exact Sciences	RCV003962412	SCV004789318	likely benign	SBF1-related condition	2019-04-29	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).