Submissions for variant NM_014270.5(SLC7A9):c.829G>A (p.Val277Met)

gnomAD frequency: 0.00024  dbSNP: rs147344717

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000904705	SCV001049240	likely benign	not provided	2023-12-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001128455	SCV001287912	uncertain significance	Cystinuria	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.
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	RCV001128455	SCV005368554	likely pathogenic	Cystinuria	2024-08-26	no assertion criteria provided	clinical testing	Variant_type:missense/MutationTaster:Disease_causing/CADD:Damaging/phyloP:Conserved/phastCons:Nonconserved/gnomAD_exome_EastAsian:0.0046/ExAC_EastAsian:0.0039/dbSNP:rs147344717