Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058173 | SCV001222722 | uncertain significance | Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | 2023-07-25 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 853379). This variant has not been reported in the literature in individuals affected with PARN-related conditions. This variant is present in population databases (rs200677089, gnomAD 0.005%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 631 of the PARN protein (p.Thr631Ala). |
Ce |
RCV003405267 | SCV004141178 | uncertain significance | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | PARN: PP2, BP4 |