ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) (rs78870822)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989747 SCV001140291 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001226654 SCV001398975 uncertain significance Dyskeratosis congenita 2019-10-04 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 83 of the CTC1 protein (p.Ser83Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs78870822, ExAC 0.03%). This variant has not been reported in the literature in individuals with CTC1-related conditions. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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