ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.1116C>T (p.Gly372=)

gnomAD frequency: 0.00001  dbSNP: rs557342549
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309391 SCV000369552 likely benign Neuronal ceroid lipofuscinosis 10 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001718613 SCV000512778 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing
Invitae RCV000560295 SCV000628944 benign Neuronal ceroid lipofuscinosis 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436145 SCV002747614 likely benign Inborn genetic diseases 2017-10-11 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.

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