Submissions for variant NM_001909.5(CTSD):c.154G>A (p.Val52Ile)

gnomAD frequency: 0.00026  dbSNP: rs143517230

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721192	SCV000240873	likely benign	not provided	2020-11-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314713	SCV000847567	likely benign	Inborn genetic diseases	2016-08-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000862792	SCV001003345	likely benign	Neuronal ceroid lipofuscinosis	2024-01-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001108795	SCV001266076	uncertain significance	Neuronal ceroid lipofuscinosis 10	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.