ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.808A>T (p.Ile270Phe)

dbSNP: rs372615343
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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 RCV002844498 SCV003614573 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.808A>T (p.I270F) alteration is located in exon 6 (coding exon 6) of the RPGRIP1 gene. This alteration results from a A to T substitution at nucleotide position 808, causing the isoleucine (I) at amino acid position 270 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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