ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.499A>C (p.Lys167Gln)

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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 RCV004847094 SCV005485516 uncertain significance not specified 2024-12-10 criteria provided, single submitter clinical testing The c.499A>C (p.K167Q) alteration is located in exon 3 (coding exon 3) of the RAET1L gene. This alteration results from a A to C substitution at nucleotide position 499, causing the lysine (K) at amino acid position 167 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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