ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter) (rs1291935778)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779185 SCV000915714 uncertain significance Fanconi anemia, complementation group P 2017-09-13 criteria provided, single submitter clinical testing The SLX4 c.4996C>T (p.Arg1666Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.00017 in the East Asian population from 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. Due to 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 Fanconi anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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