ClinVar Miner

Submissions for variant NM_001903.5(CTNNA1):c.347G>A (p.Cys116Tyr)

gnomAD frequency: 0.00001  dbSNP: rs761084210
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795830 SCV000935308 uncertain significance not provided 2023-07-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 642375). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CTNNA1 protein function. This missense change has been observed in individual(s) with familial strabismus (PMID: 33435129). This variant is present in population databases (rs761084210, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 116 of the CTNNA1 protein (p.Cys116Tyr).
Ambry Genetics RCV001020401 SCV001181876 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-12 criteria provided, single submitter clinical testing The p.C116Y variant (also known as c.347G>A), located in coding exon 3 of the CTNNA1 gene, results from a G to A substitution at nucleotide position 347. The cysteine at codon 116 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics RCV002477810 SCV002780367 uncertain significance Patterned macular dystrophy 2 2021-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000795830 SCV004014436 uncertain significance not provided 2023-01-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual undergoing hereditary cancer genetic testing and in a family with strabismus (Clark et al., 2020; An et al., 2021); This variant is associated with the following publications: (PMID: 32051609, 33435129)
Baylor Genetics RCV002477810 SCV004211294 uncertain significance Patterned macular dystrophy 2 2023-07-04 criteria provided, single submitter clinical testing

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