ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1838A>C (p.Glu613Ala)

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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 RCV004962329 SCV005488019 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.1838A>C (p.E613A) alteration is located in exon 14 (coding exon 14) of the RPGRIP1 gene. This alteration results from a A to C substitution at nucleotide position 1838, causing the glutamic acid (E) at amino acid position 613 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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