ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn)

gnomAD frequency: 0.00004  dbSNP: rs141073933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037062 SCV001200457 uncertain significance Nephronophthisis 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 924 of the NPHP3 protein (p.Asp924Asn). This variant is present in population databases (rs141073933, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 836036). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002497359 SCV002791397 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552472 SCV003740920 uncertain significance Inborn genetic diseases 2021-08-04 criteria provided, single submitter clinical testing The c.2770G>A (p.D924N) alteration is located in exon 20 (coding exon 20) of the NPHP3 gene. This alteration results from a G to A substitution at nucleotide position 2770, causing the aspartic acid (D) at amino acid position 924 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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