ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.299T>G (p.Val100Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003072054 SCV003467612 uncertain significance Atrial standstill 1; Atrial fibrillation, familial, 11 2024-10-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 100 of the GJA5 protein (p.Val100Gly). This variant is present in population databases (rs138375318, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GJA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 2154892). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GJA5 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV003250740 SCV003952336 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.299T>G (p.V100G) alteration is located in exon 2 (coding exon 1) of the GJA5 gene. This alteration results from a T to G substitution at nucleotide position 299, causing the valine (V) at amino acid position 100 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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