Submissions for variant NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser)

gnomAD frequency: 0.00206  dbSNP: rs199705951

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000881459	SCV001024637	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001002008	SCV001159824	uncertain significance	Charcot-Marie-Tooth disease type 4B3	2020-01-09	criteria provided, single submitter	clinical testing	The SBF1 c.2393A>G; p.Asn798Ser variant (rs199705951), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 709964). This variant is found in the African population with an overall allele frequency of 0.7% (179/23900 alleles, including a single homozygote) in the Genome Aggregation Database. The asparagine at codon 798 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Asn798Ser variant is uncertain at this time.
Mayo Clinic Laboratories, Mayo Clinic	RCV000881459	SCV005410311	uncertain significance	not provided	2024-03-19	criteria provided, single submitter	clinical testing	BS1
PreventionGenetics, part of Exact Sciences	RCV003948312	SCV004758233	benign	SBF1-related disorder	2022-08-29	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).