ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile)

gnomAD frequency: 0.00003  dbSNP: rs201560353
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699938 SCV000828670 uncertain significance Dyskeratosis congenita 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 529 of the CTC1 protein (p.Leu529Ile). This variant is present in population databases (rs201560353, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CTC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 577242). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CTC1 protein function with a positive predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV000996487 SCV001151205 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335134 SCV001528195 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2018-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000996487 SCV002050538 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Genome-Nilou Lab RCV001335134 SCV002055602 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing

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