ClinVar Miner

Submissions for variant NM_015634.4(KIFBP):c.1083dup (p.Ala362fs) (rs769950460)

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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 RCV000334908 SCV000363344 uncertain significance Goldberg-Shprintzen megacolon syndrome 2017-04-27 criteria provided, single submitter clinical testing The KIF1BP c.1083dupA (p.Ala362SerfsTer8) variant results in a frameshift and is predicted to result in 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 p.Ala362SerfsTer8 variant is reported at a frequency of 0.00024 in the total population of the Exome Sequencing Project. 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 frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity for Goldberg-Shprintzen megacolon syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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