ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.184G>A (p.Ala62Thr)

dbSNP: rs886043591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000293229 SCV000340886 uncertain significance not provided 2016-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001047110 SCV001211045 uncertain significance Nephronophthisis 2023-08-04 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 NPHP1 protein function. ClinVar contains an entry for this variant (Variation ID: 287188). This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 62 of the NPHP1 protein (p.Ala62Thr).

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