ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.418G>A (p.Ala140Thr)

gnomAD frequency: 0.01384  dbSNP: rs79274952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312337 SCV000846418 benign Inborn genetic diseases 2016-05-02 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000968781 SCV001116255 benign Neuronal ceroid lipofuscinosis 13 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001662786 SCV001873820 benign not provided 2019-08-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001662786 SCV005318629 benign not provided criteria provided, single submitter not provided

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