ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3143A>G (p.His1048Arg)

gnomAD frequency: 0.00001  dbSNP: rs934058701
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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 RCV001072093 SCV001237436 uncertain significance Nephronophthisis 2021-12-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 864822). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1048 of the NPHP3 protein (p.His1048Arg).
Ambry Genetics RCV004031169 SCV004990969 uncertain significance Inborn genetic diseases 2023-11-21 criteria provided, single submitter clinical testing The c.3143A>G (p.H1048R) alteration is located in exon 22 (coding exon 22) of the NPHP3 gene. This alteration results from a A to G substitution at nucleotide position 3143, causing the histidine (H) at amino acid position 1048 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029672 SCV005663558 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-05-28 criteria provided, single submitter clinical testing

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