ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2682_2683insA (p.His895fs) (rs776988446)

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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 RCV000362187 SCV000395133 uncertain significance Saldino-Mainzer syndrome 2017-04-27 criteria provided, single submitter clinical testing The IFT140 c.2682_2683insA (p.His895ThrfsTer57) 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 variant is reported at a frequency of 0.00005 in the European (non-Finnish) population from the Exome Aggregation Consortium but this is based on one allele only so it is presumed to be rare. 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 frameshift variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Mainzer-Saldino syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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