ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn)

gnomAD frequency: 0.00001  dbSNP: rs950631722
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234741 SCV001407399 uncertain significance Nephronophthisis 15 2019-09-16 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 not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 1231 of the CEP164 protein (p.Ser1231Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine.

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