ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg) (rs1565018716)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716673 SCV000847515 uncertain significance Seizures 2016-08-15 criteria provided, single submitter clinical testing The p.G346R variant (also known as c.1036G>C), located in coding exon 8 of the CTSD gene, results from a G to C substitution at nucleotide position 1036. The glycine at codon 346 is replaced by arginine, 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 poorly 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 variant remains unclear.

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