Submissions for variant NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)

gnomAD frequency: 0.00159  dbSNP: rs184868814

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001785721	SCV002028049	uncertain significance	not provided	2021-11-16	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in homozygous state in multiple unrelated individuals of East Asian and Polynesian ancestry with SPTCL in published literature (Gayden et al., 2018), but was also observed in the homozygous state in healthy controls (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30792187, 30374066, 32005988)
Fulgent Genetics, Fulgent Genetics	RCV000768411	SCV002786618	uncertain significance	Subcutaneous panniculitis-like T-cell lymphoma	2022-03-14	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000768411	SCV003810657	uncertain significance	Subcutaneous panniculitis-like T-cell lymphoma	2023-10-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001785721	SCV004157903	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	HAVCR2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001785721	SCV005188714	uncertain significance	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV001785721	SCV005411928	uncertain significance	not provided	2024-05-23	criteria provided, single submitter	clinical testing	BS1, PM3, PS3_moderate, PS4_moderate
OMIM	RCV000768411	SCV000899166	risk factor	Subcutaneous panniculitis-like T-cell lymphoma	2024-04-12	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003955498	SCV004767476	likely benign	HAVCR2-related disorder	2019-10-18	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).