ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.937G>T (p.Asp313Tyr)

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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 RCV003082610 SCV003483746 uncertain significance Nephronophthisis 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. This variant is present in population databases (rs755503853, gnomAD 0.005%). 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 disruptive. This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 369 of the NPHP1 protein (p.Asp369Tyr). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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