Submissions for variant NM_001909.5(CTSD):c.1071+7G>A

gnomAD frequency: 0.00029  dbSNP: rs374010531

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124626	SCV000168059	benign	not specified	2013-02-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475449	SCV000560550	likely benign	Neuronal ceroid lipofuscinosis	2025-01-23	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000124626	SCV000613028	likely benign	not specified	2017-01-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103554	SCV001260327	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.
PreventionGenetics, part of Exact Sciences	RCV003915248	SCV004736493	benign	CTSD-related disorder	2024-06-07	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).