ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3299G>C (p.Gly1100Ala) (rs758927671)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728715 SCV000856320 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV000801067 SCV000940824 uncertain significance Nephronophthisis 2018-12-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 1100 of the NPHP3 protein (p.Gly1100Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs758927671, ExAC 0.001%). This variant has not been reported in the literature in individuals with NPHP3-related conditions. 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: "Tolerated"; 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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