ClinVar Miner

Submissions for variant NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)

gnomAD frequency: 0.00627  dbSNP: rs202233735
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000414998 SCV000328716 likely benign Cataract 4 multiple types 2017-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000414998 SCV000426673 likely benign Cataract 4 multiple types 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000859322 SCV000644751 benign Aculeiform cataract 2023-11-27 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258237 SCV001435143 likely benign Joubert syndrome 17 criteria provided, single submitter research The heterozygous p.Tyr56Ter variant in CRYGD has been identified in 3 Brazilian relatives from 1 family with cataracts (PMID: 19390652), but has also been identified in >3% of Latino chromosomes and 4 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal dominant cataracts.
Institute of Human Genetics, University of Leipzig Medical Center RCV000414998 SCV001440806 uncertain significance Cataract 4 multiple types 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001636930 SCV001852472 benign not provided 2020-02-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31216405, 28849415, 27959697, 27535533, 19390652, 22995991)
CeGaT Center for Human Genetics Tuebingen RCV001636930 SCV004148465 benign not provided 2023-06-01 criteria provided, single submitter clinical testing CRYGD: BS1, BS2

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