ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.988G>A (p.Glu330Lys)

gnomAD frequency: 0.00001  dbSNP: rs758498695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000197404 SCV000253725 pathogenic Nephronophthisis 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 330 of the NPHP3 protein (p.Glu330Lys). This variant is present in population databases (rs758498695, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of NPHP3-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 216011). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on NPHP3 protein function. For these reasons, this variant has been classified as Pathogenic.

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