ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.2194G>A (p.Val732Ile)

dbSNP: rs142039934
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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 RCV001246277 SCV001419620 uncertain significance Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2022-02-05 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 970669). This variant is also known as c.2266G>A (p.Val756Ile). This variant has not been reported in the literature in individuals affected with RTEL1-related conditions. This variant is present in population databases (rs142039934, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 732 of the RTEL1 protein (p.Val732Ile).
Natera, Inc. RCV001829983 SCV002095451 uncertain significance Dyskeratosis congenita 2020-04-30 no assertion criteria provided clinical testing

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