ClinVar Miner

Submissions for variant NM_207335.4(KBTBD12):c.716T>G (p.Met239Arg)

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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 RCV004932401 SCV005605806 uncertain significance not specified 2024-11-12 criteria provided, single submitter clinical testing The c.716T>G (p.M239R) 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 716, causing the methionine (M) at amino acid position 239 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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