ClinVar Miner

Submissions for variant NM_181703.4(GJA5):c.995G>A (p.Arg332His)

gnomAD frequency: 0.00037  dbSNP: rs116551187
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000359770 SCV000348118 uncertain significance Atrial fibrillation, familial, 11 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000649051 SCV000770876 likely benign Atrial standstill 1; Atrial fibrillation, familial, 11 2025-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763745 SCV000894631 uncertain significance Chromosome 1q21.1 deletion syndrome; Atrial standstill 1; Atrial fibrillation, familial, 11 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519382 SCV003646865 uncertain significance Inborn genetic diseases 2021-11-08 criteria provided, single submitter clinical testing The c.995G>A (p.R332H) alteration is located in exon 2 (coding exon 1) of the GJA5 gene. This alteration results from a G to A substitution at nucleotide position 995, causing the arginine (R) at amino acid position 332 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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