ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.703A>G (p.Ser235Gly)

gnomAD frequency: 0.00003  dbSNP: rs777527578
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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 RCV001226988 SCV001399322 uncertain significance Nephronophthisis 15 2024-02-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 235 of the CEP164 protein (p.Ser235Gly). This variant is present in population databases (rs777527578, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. ClinVar contains an entry for this variant (Variation ID: 954523). 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 glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV001226988 SCV005680744 uncertain significance Nephronophthisis 15 2024-06-03 criteria provided, single submitter clinical testing

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