ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.499G>A (p.Val167Met)

gnomAD frequency: 0.00004  dbSNP: rs748619597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226462 SCV001398775 uncertain significance Nephronophthisis 15 2019-08-28 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 (rs748619597, ExAC 0.02%). This sequence change replaces valine with methionine at codon 167 of the CEP164 protein (p.Val167Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.
Fulgent Genetics, Fulgent Genetics RCV001226462 SCV002791751 uncertain significance Nephronophthisis 15 2022-05-04 criteria provided, single submitter clinical testing

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