ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.391G>A (p.Ala131Thr)

gnomAD frequency: 0.00001  dbSNP: rs1170971867
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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 RCV004127340 SCV003602086 uncertain significance not specified 2022-12-16 criteria provided, single submitter clinical testing The c.391G>A (p.A131T) alteration is located in exon 3 (coding exon 3) of the RAET1L gene. This alteration results from a G to A substitution at nucleotide position 391, causing the alanine (A) at amino acid position 131 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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