ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs374540411
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711476 SCV000240899 likely benign not provided 2019-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314714 SCV000848256 uncertain significance Inborn genetic diseases 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 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144152 SCV003828738 uncertain significance Neuronal ceroid lipofuscinosis 10 2020-03-04 criteria provided, single submitter clinical testing

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