ClinVar Miner

Submissions for variant NM_018319.4(TDP1):c.1799C>T (p.Thr600Met) (rs772139596)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001002022 SCV000389409 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 2018-01-12 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002022 SCV001159845 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 2018-08-12 criteria provided, single submitter clinical testing The TDP1 c.1799C>T; p.Thr600Met variant (rs772139596), to our knowledge, is not reported in the medical literature but is reported as uncertain significance in ClinVar (Variation ID: 314841). This variant is found in the general population with an overall allele frequency of 0.003% (8/277,104 alleles) in the Genome Aggregation Database. The threonine at codon 600 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Thr600Met variant is uncertain at this time.

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