ClinVar Miner

Submissions for variant NM_001278431.2(C1QTNF5):c.198C>T (p.Gly66=)

gnomAD frequency: 0.00001  dbSNP: rs932268494
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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 RCV001064804 SCV001229725 uncertain significance not provided 2023-09-20 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 858834). This variant has not been reported in the literature in individuals affected with C1QTNF5-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 affects codon 66 of the C1QTNF5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the C1QTNF5 protein.
PreventionGenetics, part of Exact Sciences RCV003906170 SCV004725550 likely benign C1QTNF5-related disorder 2019-06-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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