ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.926G>A (p.Arg309His) (rs374540411)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187317 SCV000240899 likely benign not specified 2016-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000717406 SCV000848256 uncertain significance Seizures 2018-02-06 criteria provided, single submitter clinical testing The p.R309H variant (also known as c.926G>A), located in coding exon 7 of the CTSD gene, results from a G to A substitution at nucleotide position 926. The arginine at codon 309 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not 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.
Invitae RCV000864860 SCV001005727 benign Neuronal ceroid lipofuscinosis 2020-10-26 criteria provided, single submitter clinical testing

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