ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.535C>T (p.Arg179Cys)

gnomAD frequency: 0.00004  dbSNP: rs560471003
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766627 SCV000242344 uncertain significance not provided 2024-08-09 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV000188720 SCV000614762 uncertain significance not specified 2016-11-14 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661982 SCV000784313 uncertain significance Neuronal ceroid lipofuscinosis 1 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000661982 SCV001005829 benign Neuronal ceroid lipofuscinosis 1 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345676 SCV002645092 uncertain significance Inborn genetic diseases 2020-03-18 criteria provided, single submitter clinical testing The p.R179C variant (also known as c.535C>T), located in coding exon 5 of the PPT1 gene, results from a C to T substitution at nucleotide position 535. The arginine at codon 179 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000661982 SCV001460032 benign Neuronal ceroid lipofuscinosis 1 2020-04-30 no assertion criteria provided clinical testing

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