ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.1297G>C (p.Val433Leu)

dbSNP: rs782206624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004629554 SCV005123453 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.1297G>C (p.V433L) alteration is located in exon 2 (coding exon 1) of the GJA8 gene. This alteration results from a G to C substitution at nucleotide position 1297, causing the valine (V) at amino acid position 433 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001309598 SCV001499103 uncertain significance Cataract 1 multiple types 2021-08-31 criteria provided, single submitter clinical testing

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