Submissions for variant NM_004937.3(CTNS):c.661G>A (p.Val221Met)

gnomAD frequency: 0.00029  dbSNP: rs138270433

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001126641	SCV001285862	uncertain significance	Ocular cystinosis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001126642	SCV001285863	uncertain significance	Nephropathic cystinosis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics	RCV005093584	SCV002790340	uncertain significance	Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis	2022-03-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002558246	SCV003254967	likely benign	Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases	2025-01-20	criteria provided, single submitter	clinical testing