Submissions for variant NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)

gnomAD frequency: 0.00011  dbSNP: rs200876438

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000291893	SCV000387751	likely benign	Spherocytosis, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000349127	SCV000387752	likely benign	Elliptocytosis	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056405	SCV002405078	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV002056405	SCV002541632	uncertain significance	not provided	2021-12-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002056405	SCV003800563	likely benign	not provided	2022-10-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004021603	SCV004956330	uncertain significance	Inborn genetic diseases	2023-12-19	criteria provided, single submitter	clinical testing	The c.4511C>T (p.A1504V) alteration is located in exon 21 (coding exon 21) of the SPTB gene. This alteration results from a C to T substitution at nucleotide position 4511, causing the alanine (A) at amino acid position 1504 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003930344	SCV004737825	likely benign	SPTB-related disorder	2020-06-05	no assertion criteria provided	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).