ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1436G>A (p.Gly479Asp)

gnomAD frequency: 0.00001  dbSNP: rs960255611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903533 SCV002173489 uncertain significance Nephronophthisis 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 535 of the NPHP1 protein (p.Gly535Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. 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: "Possibly Damaging"; 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.
Ambry Genetics RCV002557577 SCV003644227 uncertain significance Inborn genetic diseases 2024-10-23 criteria provided, single submitter clinical testing The c.1604G>A (p.G535D) alteration is located in exon 16 (coding exon 16) of the NPHP1 gene. This alteration results from a G to A substitution at nucleotide position 1604, causing the glycine (G) at amino acid position 535 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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