ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.101del (p.Asn34fs)

dbSNP: rs281865295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074897 SCV001240501 pathogenic Retinal dystrophy 2019-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513921 SCV003444643 pathogenic Primary ciliary dyskinesia 2024-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn34Metfs*34) in the RPGR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGR are known to be pathogenic (PMID: 16055928, 16969763). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 11180598, 31953110). This variant is also known as 160delA. ClinVar contains an entry for this variant (Variation ID: 98815). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085138 SCV000117275 not provided not provided no assertion provided not provided

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