ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg)

dbSNP: rs1554962202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632718 SCV000753904 uncertain significance Neuronal ceroid lipofuscinosis 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360525 SCV002661990 uncertain significance Inborn genetic diseases 2017-11-29 criteria provided, single submitter clinical testing The p.L412R variant (also known as c.1235T>G), located in coding exon 9 of the CTSD gene, results from a T to G substitution at nucleotide position 1235. The leucine at codon 412 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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