ClinVar Miner

Submissions for variant NM_207335.4(KBTBD12):c.22A>G (p.Lys8Glu)

dbSNP: rs2472858610
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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 RCV004403854 SCV004890989 uncertain significance not specified 2024-01-03 criteria provided, single submitter clinical testing The c.22A>G (p.K8E) alteration is located in exon 1 (coding exon 1) of the KBTBD12 gene. This alteration results from a A to G substitution at nucleotide position 22, causing the lysine (K) at amino acid position 8 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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