ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.539T>A (p.Met180Lys)

dbSNP: rs147287797
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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 RCV004445564 SCV004936050 uncertain significance not specified 2023-12-21 criteria provided, single submitter clinical testing The c.539T>A (p.M180K) alteration is located in exon 3 (coding exon 3) of the RAET1L gene. This alteration results from a T to A substitution at nucleotide position 539, causing the methionine (M) at amino acid position 180 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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