ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.410G>A (p.Arg137His)

dbSNP: rs1401332285
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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 RCV003364684 SCV004079867 uncertain significance Inborn genetic diseases 2023-07-29 criteria provided, single submitter clinical testing The c.410G>A (p.R137H) alteration is located in exon 3 (coding exon 3) of the RPGRIP1 gene. This alteration results from a G to A substitution at nucleotide position 410, causing the arginine (R) at amino acid position 137 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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