ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3190C>G (p.Leu1064Val)

gnomAD frequency: 0.00001  dbSNP: rs373448481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333378 SCV001525938 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2018-06-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001859311 SCV002200806 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 1064 of the RTEL1 protein (p.Leu1064Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs373448481, ExAC 0.002%). This variant has not been reported in the literature in individuals with RTEL1-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: "Tolerated"; PolyPhen-2: "Possibly 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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