Submissions for variant NM_001384479.1(AGT):c.103G>A (p.Val35Ile)

gnomAD frequency: 0.00001  dbSNP: rs146773738

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003081513	SCV003465870	uncertain significance	not provided	2022-02-21	criteria provided, single submitter	clinical testing	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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AGT protein function. This variant has not been reported in the literature in individuals affected with AGT-related conditions. This variant is present in population databases (rs146773738, gnomAD 0.03%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 44 of the AGT protein (p.Val44Ile).
Fulgent Genetics, Fulgent Genetics	RCV005019644	SCV005646188	uncertain significance	Renal tubular dysgenesis of genetic origin	2024-01-16	criteria provided, single submitter	clinical testing