ClinVar Miner

Submissions for variant NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile)

gnomAD frequency: 0.00006  dbSNP: rs200457939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001150494 SCV001311564 likely benign Cataract 22 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 RCV001150494 SCV001543847 uncertain significance Cataract 22 multiple types 2020-10-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CRYBB3-related conditions. This variant is present in population databases (rs200457939, ExAC 0.02%). This sequence change replaces phenylalanine with isoleucine at codon 79 of the CRYBB3 protein (p.Phe79Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine.
Ambry Genetics RCV002557240 SCV003730339 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.235T>A (p.F79I) alteration is located in exon 4 (coding exon 3) of the CRYBB3 gene. This alteration results from a T to A substitution at nucleotide position 235, causing the phenylalanine (F) at amino acid position 79 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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