ClinVar Miner

Submissions for variant NM_001286134.2(RIC8A):c.334G>A (p.Asp112Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005266919 SCV005932511 uncertain significance not specified 2025-03-01 criteria provided, single submitter clinical testing The c.334G>A (p.D112N) alteration is located in exon 3 (coding exon 3) of the RIC8A gene. This alteration results from a G to A substitution at nucleotide position 334, causing the aspartic acid (D) at amino acid position 112 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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