ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys)

gnomAD frequency: 0.00005  dbSNP: rs62638645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531769 SCV001747042 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071900 SCV002482140 benign Primary ciliary dyskinesia 2023-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002071900 SCV003975686 uncertain significance Primary ciliary dyskinesia 2023-05-16 criteria provided, single submitter clinical testing The c.415G>A (p.E139K) alteration is located in exon 5 (coding exon 5) of the RPGR gene. This alteration results from a G to A substitution at nucleotide position 415, causing the glutamic acid (E) at amino acid position 139 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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