ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.1783A>G (p.Met595Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002642274 SCV002961232 uncertain significance Nephronophthisis 15 2022-06-20 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 valine 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. This variant is present in population databases (rs775044441, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 595 of the CEP164 protein (p.Met595Val).
Ambry Genetics RCV002635180 SCV003585015 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.1783A>G (p.M595V) alteration is located in exon 15 (coding exon 13) of the CEP164 gene. This alteration results from a A to G substitution at nucleotide position 1783, causing the methionine (M) at amino acid position 595 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002642274 SCV005680788 uncertain significance Nephronophthisis 15 2024-03-29 criteria provided, single submitter clinical testing

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