ClinVar Miner

Submissions for variant NM_058192.3(RPUSD1):c.140G>A (p.Arg47His)

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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 RCV004854967 SCV005493711 uncertain significance not specified 2024-12-02 criteria provided, single submitter clinical testing The c.140G>A (p.R47H) alteration is located in exon 2 (coding exon 1) of the RPUSD1 gene. This alteration results from a G to A substitution at nucleotide position 140, causing the arginine (R) at amino acid position 47 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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