ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) (rs190548695)

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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 RCV000338910 SCV000345905 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764464 SCV000895529 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; Meckel syndrome type 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000799611 SCV000939282 uncertain significance Nephronophthisis 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 1299 of the NPHP3 protein (p.Gly1299Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs190548695, ExAC 0.08%). This variant has been observed to be homozygous in an individual affected with congenital heart defects (PMID: 28991257). ClinVar contains an entry for this variant (Variation ID: 291194). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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