ClinVar Miner

Submissions for variant NM_058192.3(RPUSD1):c.787G>A (p.Glu263Lys)

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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 RCV004665846 SCV005164222 uncertain significance not specified 2024-04-27 criteria provided, single submitter clinical testing The c.787G>A (p.E263K) alteration is located in exon 6 (coding exon 5) of the RPUSD1 gene. This alteration results from a G to A substitution at nucleotide position 787, causing the glutamic acid (E) at amino acid position 263 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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