ClinVar Miner

Submissions for variant NM_000272.4(NPHP1):c.809G>T (p.Cys270Phe) (rs764086072)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460006 SCV000552127 uncertain significance Nephronophthisis 2016-12-05 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 270 of the NPHP1 protein (p.Cys270Phe). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and phenylalanine. The frequency data for this variant (rs764086072) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with an NPHP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598043 SCV000708613 uncertain significance not provided 2017-05-18 criteria provided, single submitter clinical testing

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