ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1141G>A (p.Glu381Lys)

gnomAD frequency: 0.00002  dbSNP: rs748615630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734916 SCV000863096 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing
Invitae RCV001868998 SCV002220508 uncertain significance Nephronophthisis 2022-08-23 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 381 of the NPHP3 protein (p.Glu381Lys). This variant is present in population databases (rs748615630, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 598507). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002507310 SCV002815235 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-01-07 criteria provided, single submitter clinical testing

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