ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.1187G>A (p.Arg396Gln)

gnomAD frequency: 0.00138  dbSNP: rs141279458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000906590 SCV001051237 likely benign not provided 2024-12-19 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075368 SCV001240989 uncertain significance Retinal dystrophy 2018-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542090 SCV003675367 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.1187G>A (p.R396Q) alteration is located in exon 4 (coding exon 3) of the RP1 gene. This alteration results from a G to A substitution at nucleotide position 1187, causing the arginine (R) at amino acid position 396 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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