Submissions for variant NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His)

gnomAD frequency: 0.00066  dbSNP: rs145390629

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000654066	SCV000775956	likely benign	Charcot-Marie-Tooth disease type 4	2024-10-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002343380	SCV002619425	uncertain significance	Inborn genetic diseases	2024-11-14	criteria provided, single submitter	clinical testing	The c.3644G>A (p.R1215H) alteration is located in exon 16 (coding exon 16) of the SH3TC2 gene. This alteration results from a G to A substitution at nucleotide position 3644, causing the arginine (R) at amino acid position 1215 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic	RCV003480743	SCV004227140	uncertain significance	not provided	2023-01-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533427	SCV004737025	likely benign	SH3TC2-related disorder	2023-05-10	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).