ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)

gnomAD frequency: 0.00041  dbSNP: rs138448968
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189750 SCV000243398 uncertain significance not provided 2021-01-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Illumina Laboratory Services, Illumina RCV000341505 SCV000373337 uncertain significance Neuronal ceroid lipofuscinosis 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV000765001 SCV000896184 uncertain significance Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000189750 SCV002324842 likely benign not provided 2022-11-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000189750 SCV002563061 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362994 SCV002664749 uncertain significance Inborn genetic diseases 2019-06-14 criteria provided, single submitter clinical testing The p.G34D variant (also known as c.101G>A), located in coding exon 3 of the TPP1 gene, results from a G to A substitution at nucleotide position 101. The glycine at codon 34 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by BayesDel in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000341505 SCV002094886 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-02-26 no assertion criteria provided clinical testing

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