ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.323A>C (p.Glu108Ala)

gnomAD frequency: 0.00001  dbSNP: rs371290162
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733266 SCV000861312 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493353 SCV002782607 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535318 SCV003453104 uncertain significance Nephronophthisis 2022-09-01 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 597212). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (rs371290162, gnomAD 0.04%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 108 of the NPHP3 protein (p.Glu108Ala).
Ambry Genetics RCV004027056 SCV004990971 uncertain significance Inborn genetic diseases 2023-12-17 criteria provided, single submitter clinical testing The c.323A>C (p.E108A) alteration is located in exon 1 (coding exon 1) of the NPHP3 gene. This alteration results from a A to C substitution at nucleotide position 323, causing the glutamic acid (E) at amino acid position 108 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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