ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.1067T>A (p.Leu356Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005224972 SCV005869844 uncertain significance Atrial standstill 1; Atrial fibrillation, familial, 11 2025-01-31 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the GJA5 gene. It does not change the encoded amino acid sequence of the GJA5 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GJA5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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