Submissions for variant NM_017827.4(SARS2):c.17C>T (p.Ala6Val)

gnomAD frequency: 0.00029  dbSNP: rs201988841

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001943670	SCV002194889	uncertain significance	not provided	2022-06-08	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 6 of the SARS2 protein (p.Ala6Val). This variant is present in population databases (rs201988841, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SARS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics	RCV002507578	SCV002813325	uncertain significance	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	2024-04-17	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV002507578	SCV003820655	uncertain significance	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	2021-05-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001943670	SCV004141671	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	SARS2: BP4