ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.553A>C (p.Ile185Leu)

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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 RCV004665314 SCV005163536 uncertain significance not specified 2024-03-29 criteria provided, single submitter clinical testing The c.553A>C (p.I185L) 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 553, causing the isoleucine (I) at amino acid position 185 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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