Submissions for variant NM_017827.4(SARS2):c.1317C>T (p.Thr439=)

gnomAD frequency: 0.00013  dbSNP: rs556892787

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000676528	SCV001056526	likely benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001133789	SCV001293500	uncertain significance	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000676528	SCV001792773	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676528	SCV004141668	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	SARS2: BP4, BP7
Mayo Clinic Laboratories, Mayo Clinic	RCV000676528	SCV000802313	likely benign	not provided	2016-02-25	no assertion criteria provided	clinical testing