Submissions for variant NM_001903.5(CTNNA1):c.53T>C (p.Leu18Pro)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001368275	SCV001564662	uncertain significance	not provided	2021-11-06	criteria provided, single submitter	clinical testing	This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 18 of the CTNNA1 protein (p.Leu18Pro). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1059063). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics	RCV002350705	SCV002651464	uncertain significance	Hereditary cancer-predisposing syndrome	2021-09-01	criteria provided, single submitter	clinical testing	The p.L18P variant (also known as c.53T>C), located in coding exon 1 of the CTNNA1 gene, results from a T to C substitution at nucleotide position 53. The leucine at codon 18 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx	RCV001368275	SCV005379679	uncertain significance	not provided	2023-11-25	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics	RCV005038144	SCV005668863	uncertain significance	Patterned macular dystrophy 2	2024-05-02	criteria provided, single submitter	clinical testing

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