ClinVar Miner

Submissions for variant NM_207335.4(KBTBD12):c.97G>A (p.Val33Met)

gnomAD frequency: 0.00001  dbSNP: rs755667279
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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 RCV004144313 SCV003616320 uncertain significance not specified 2022-08-02 criteria provided, single submitter clinical testing The c.97G>A (p.V33M) alteration is located in exon 1 (coding exon 1) of the KBTBD12 gene. This alteration results from a G to A substitution at nucleotide position 97, causing the valine (V) at amino acid position 33 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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