Submissions for variant NM_001903.5(CTNNA1):c.237dup (p.Ala80fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV004947648	SCV005568417	uncertain significance	Hereditary cancer-predisposing syndrome	2024-07-18	criteria provided, single submitter	clinical testing	The c.237dupT variant, located in coding exon 2 of the CTNNA1 gene, results from a duplication of T at nucleotide position 237, causing a translational frameshift with a predicted alternate stop codon (p.A80Cfs*23). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005110159	SCV005765245	pathogenic	not provided	2024-08-29	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ala80Cysfs*23) in the CTNNA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTNNA1 are known to be pathogenic (PMID: 32051609, 34425242). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTNNA1-related conditions. For these reasons, this variant has been classified as Pathogenic.