ClinVar Miner

Submissions for variant NM_001902.6(CTH):c.465G>A (p.Trp155Ter)

gnomAD frequency: 0.00001  dbSNP: rs1032541755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000778253 SCV000914425 uncertain significance Cystathioninuria 2018-12-10 criteria provided, single submitter clinical testing The CTH c.465G>A (p.Trp155Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000024 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for cystathioninuria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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