ClinVar Miner

Submissions for variant NM_000394.4(CRYAA):c.440del (p.Gln147fs)

dbSNP: rs1114167311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857842 SCV002287582 likely pathogenic Cataract 9 multiple types 2021-03-19 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with congenital cataract (PMID: 28839118, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 252948). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the CRYAA gene (p.Gln147Argfs*48). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the CRYAA protein and extend the protein by 20 additional amino acid residues. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV002461043 SCV002757228 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35526854, 28839118)
Department of Ophthalmology, Flinders University RCV000490785 SCV000297751 likely pathogenic Developmental cataract 2016-07-29 no assertion criteria provided clinical testing

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