ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3519T>A (p.Asp1173Glu)

gnomAD frequency: 0.00002  dbSNP: rs746686807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034813 SCV001198112 uncertain significance Nephronophthisis 15 2020-02-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CEP164-related conditions. This variant is present in population databases (rs746686807, ExAC 0.02%). This sequence change replaces aspartic acid with glutamic acid at codon 1173 of the CEP164 protein (p.Asp1173Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid.

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