ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.2505del (p.Ala836fs)

dbSNP: rs1575369255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817362 SCV000957916 pathogenic Cataract 18 2018-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala836Profs*80) in the FYCO1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal recessive congenital cataract in a family (PMID: 22935719). Loss-of-function variants in FYCO1 are known to be pathogenic (PMID: 21636066). For these reasons, this variant has been classified as Pathogenic.

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