ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)

gnomAD frequency: 0.00034  dbSNP: rs149529997
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189793 SCV000243441 uncertain significance not provided 2021-12-07 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000764996 SCV000896179 uncertain significance Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000189793 SCV002396141 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390502 SCV002709655 uncertain significance Inborn genetic diseases 2018-04-25 criteria provided, single submitter clinical testing The p.Q509R variant (also known as c.1526A>G), located in coding exon 12 of the TPP1 gene, results from an A to G substitution at nucleotide position 1526. The glutamine at codon 509 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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.
Natera, Inc. RCV001274537 SCV001458784 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-04-14 no assertion criteria provided clinical testing

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