ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.338A>G (p.Lys113Arg)

gnomAD frequency: 0.00018  dbSNP: rs77118839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327350 SCV001518423 uncertain significance Nephronophthisis 15 2023-07-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1026843). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CEP164-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 113 of the CEP164 protein (p.Lys113Arg).
Fulgent Genetics, Fulgent Genetics RCV001327350 SCV002785877 uncertain significance Nephronophthisis 15 2021-09-13 criteria provided, single submitter clinical testing

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