ClinVar Miner

Submissions for variant NM_207335.4(KBTBD12):c.1349T>C (p.Leu450Pro)

gnomAD frequency: 0.00006  dbSNP: rs752057115
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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 RCV004224008 SCV003729386 uncertain significance not specified 2022-12-28 criteria provided, single submitter clinical testing The c.1349T>C (p.L450P) alteration is located in exon 3 (coding exon 3) of the KBTBD12 gene. This alteration results from a T to C substitution at nucleotide position 1349, causing the leucine (L) at amino acid position 450 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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