ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2122A>G (p.Thr708Ala)

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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 RCV002770323 SCV003029154 uncertain significance Nephronophthisis 2022-11-22 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt NPHP3 protein function. This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (rs760443078, gnomAD 0.006%), including at least one homozygous and/or hemizygous individual. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 708 of the NPHP3 protein (p.Thr708Ala).
Ambry Genetics RCV003375691 SCV004094511 uncertain significance Inborn genetic diseases 2023-08-14 criteria provided, single submitter clinical testing The c.2122A>G (p.T708A) alteration is located in exon 15 (coding exon 15) of the NPHP3 gene. This alteration results from a A to G substitution at nucleotide position 2122, causing the threonine (T) at amino acid position 708 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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