ClinVar Miner

Submissions for variant NM_207335.4(KBTBD12):c.983T>G (p.Val328Gly)

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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 RCV004932400 SCV005605805 uncertain significance not specified 2024-09-10 criteria provided, single submitter clinical testing The c.983T>G (p.V328G) alteration is located in exon 1 (coding exon 1) of the KBTBD12 gene. This alteration results from a T to G substitution at nucleotide position 983, causing the valine (V) at amino acid position 328 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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