ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2482G>C (p.Val828Leu)

dbSNP: rs774129927
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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 RCV001962398 SCV002209063 uncertain significance Nephronophthisis 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 828 of the NPHP4 protein (p.Val828Leu). This variant is present in population databases (rs774129927, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1434277). 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. 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 RCV004042128 SCV004990987 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.2482G>C (p.V828L) alteration is located in exon 18 (coding exon 17) of the NPHP4 gene. This alteration results from a G to C substitution at nucleotide position 2482, causing the valine (V) at amino acid position 828 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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