Submissions for variant NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr)

gnomAD frequency: 0.00105  dbSNP: rs201771255

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV001811433	SCV000782505	uncertain significance	not provided	2022-06-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811433	SCV001473071	uncertain significance	not provided	2020-08-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004026053	SCV003693521	uncertain significance	not specified	2021-08-09	criteria provided, single submitter	clinical testing	The c.373G>A (p.A125T) alteration is located in exon 3 (coding exon 3) of the SPTA1 gene. This alteration results from a G to A substitution at nucleotide position 373, causing the alanine (A) at amino acid position 125 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001811433	SCV003822670	uncertain significance	not provided	2023-08-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001811433	SCV004329648	benign	not provided	2023-05-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547832	SCV004751886	likely benign	SPTA1-related disorder	2022-07-19	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).