ClinVar Miner

Submissions for variant NM_017671.4(FERMT1):c.1812G>A (p.Trp604Ter) (rs1172664527)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520623 SCV000616713 likely pathogenic not provided 2017-07-14 criteria provided, single submitter clinical testing The W604X variant in the FERMT1 gene has been reported previously with another FERMT1 variant in an individual with features suggestive of Kindler syndrome, but it is unclear if the two variants were on the same FERMT1 allele (in cis) or on opposite alleles (in trans) (Takeichi et al., 2015). This variant is predicted to cause loss of normal protein function through protein truncation. The W604X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W604X as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000520623 SCV000986924 not provided not provided no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 08/01/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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