ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.800G>A (p.Gly267Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004953871 SCV005464512 uncertain significance Inborn genetic diseases 2024-08-05 criteria provided, single submitter clinical testing The c.800G>A (p.G267E) alteration is located in exon 4 (coding exon 4) of the NPHP3 gene. This alteration results from a G to A substitution at nucleotide position 800, causing the glycine (G) at amino acid position 267 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023732 SCV005656470 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-02-03 criteria provided, single submitter clinical testing

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