ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) (rs369447363)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596794 SCV000707043 uncertain significance not provided 2017-12-05 criteria provided, single submitter clinical testing
Invitae RCV000704076 SCV000833010 uncertain significance Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 22 of the NPHP3 protein (p.Ala22Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs369447363, ExAC 0.03%). This variant has not been reported in the literature in individuals with NPHP3-related disease. ClinVar contains an entry for this variant (Variation ID: 500896). 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 create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV000764468 SCV000895533 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; Meckel syndrome type 7 2018-10-31 criteria provided, single submitter clinical testing

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