ClinVar Miner

Submissions for variant NM_017671.4(FERMT1):c.910G>T (p.Glu304Ter) (rs146180696)

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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 RCV000209869 SCV000435013 pathogenic Kindler's syndrome 2017-10-24 criteria provided, single submitter clinical testing The FERMT1 c.910G>T (p.Glu304Ter) variant is a stop-gained variant reported in a total of ten individuals with Kindler syndrome, including five homozygotes and five compound heterozygotes (Lanschuetzer et al. 2003; Lai-Cheong et al. 2008; Has et al. 2009; Techanukul et al. 2011; Youssefian et al. 2015). The variant was absent from a total of 200 control chromosomes but is reported at a frequency of 0.00012 in the European (non-Finnish) population of the Exome Aggregation Consortium. Has et al. (2009) showed that expression of kindlin-1, the protein produced by FERMT1, was absent in primary keratinocytes from a individual homozygous for the p.Glu304Ter variant as well as a individual compound heterozygous for p.Glu304Ter and a second stop-gained variant. Based on the potential impact of stop-gained variants and the evidence from the literature, the p.Glu304Ter variant is classified as pathogenic for Kindler syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
GeneReviews RCV000209869 SCV000265624 pathogenic Kindler's syndrome 2016-01-07 no assertion criteria provided literature only

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