ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) (rs779278368)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710114 SCV000240887 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Invitae RCV001085708 SCV000560554 likely benign Neuronal ceroid lipofuscinosis 2020-10-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710114 SCV000613027 likely benign not provided 2017-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718768 SCV000849632 uncertain significance Seizures 2016-10-14 criteria provided, single submitter clinical testing The p.R34W variant (also known as c.100C>T), located in coding exon 2 of the CTSD gene, results from a C to T substitution at nucleotide position 100. The arginine at codon 34 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6501 samples (13002 alleles) with coverage at this position. This amino acid position is well conserved in available vertebrate species. 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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