ClinVar Miner

Submissions for variant NM_130900.3(RAET1L):c.530A>T (p.Asp177Val)

gnomAD frequency: 0.00015  dbSNP: rs148747435
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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 RCV004445563 SCV004936049 uncertain significance not specified 2023-10-05 criteria provided, single submitter clinical testing The c.530A>T (p.D177V) alteration is located in exon 3 (coding exon 3) of the RAET1L gene. This alteration results from a A to T substitution at nucleotide position 530, causing the aspartic acid (D) at amino acid position 177 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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