Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000640945 | SCV000762550 | uncertain significance | Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita | 2023-06-13 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 533709). This variant has not been reported in the literature in individuals affected with DCLRE1B-related conditions. This variant is present in population databases (rs770692934, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 73 of the DCLRE1B protein (p.Glu73Ala). |
Prevention |
RCV003392482 | SCV004120722 | uncertain significance | DCLRE1B-related condition | 2023-04-19 | criteria provided, single submitter | clinical testing | The DCLRE1B c.218A>C variant is predicted to result in the amino acid substitution p.Glu73Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-114449646-A-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |