ClinVar Miner

Submissions for variant NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter)

gnomAD frequency: 0.00001  dbSNP: rs121918294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512685 SCV003443360 pathogenic not provided 2022-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg288*) in the FERMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FERMT1 are known to be pathogenic (PMID: 14962093, 21936020). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Kindler syndrome (PMID: 12789646). ClinVar contains an entry for this variant (Variation ID: 2718). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics, Royal Melbourne Hospital RCV000002837 SCV004812587 pathogenic Kindler syndrome 2022-03-03 criteria provided, single submitter clinical testing This sequence change in FERMT1 is a nonsense variant predicted to cause a premature stop codon, p.(Arg288*), in biologically-relevant-exon 7/15 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PMID: 26937547). The highest population minor allele frequency in gnomAD v3.1 is 0.002% (1/41,324 alleles) in the African/African American population, which is consistent with recessive disease. This variant has been detected homozygous in at least three individuals with Kindler syndrome from unrelated consanguineous families (PMID: 12789646, 24635075). Based on the classification scheme RMH Modified ACMG Guidelines v1.5.1, this variant is classified as PATHOGENIC. Following criteria are met: PVS1, PM2_Supporting, PM3_Supporting.
OMIM RCV000002837 SCV000022995 pathogenic Kindler syndrome 2003-07-01 no assertion criteria provided literature only
GeneReviews RCV000002837 SCV000265623 not provided Kindler syndrome no assertion provided literature only Common pathogenic variant

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