ClinVar Miner

Submissions for variant NM_177965.4(CFAP418):c.533C>T (p.Ala178Val)

gnomAD frequency: 0.00001  dbSNP: rs375314973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231165 SCV002508890 uncertain significance not provided 2022-07-06 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 430653). This variant has not been reported in the literature in individuals affected with C8orf37-related conditions. This variant is present in population databases (rs375314973, gnomAD 0.08%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 178 of the C8orf37 protein (p.Ala178Val).
PreventionGenetics, part of Exact Sciences RCV003431047 SCV004118148 uncertain significance CFAP418-related condition 2023-08-16 criteria provided, single submitter clinical testing The CFAP418 c.533C>T variant is predicted to result in the amino acid substitution p.Ala178Val. This variant has been reported as a possible modifier allele for Bardet-Biedl syndrome (reported as C8ORF37, Yıldız Bölükbaşı et al. 2018. PubMed ID: 29127258). This variant is reported in 0.082% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-96259936-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Tolun Lab, Human Genetics Laboratory, Bogazici University RCV000585748 SCV000583519 uncertain significance Bardet-biedl syndrome 21 no assertion criteria provided research It is a missense variant.

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