ClinVar Miner

Submissions for variant NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala)

gnomAD frequency: 0.00001  dbSNP: rs770692934
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Total submissions: 2
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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).
PreventionGenetics, part of Exact Sciences 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.

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