ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser)

gnomAD frequency: 0.00001  dbSNP: rs763828661
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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 RCV003120507 SCV003795519 uncertain significance not provided 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 481 of the WRAP53 protein (p.Gly481Ser). This variant is present in population databases (rs763828661, gnomAD 0.006%). This missense change has been observed in individual(s) with bone marrow failure (PMID: 34573280). ClinVar contains an entry for this variant (Variation ID: 973617). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267738 SCV001424129 uncertain significance Dyskeratosis congenita, autosomal recessive 3 2020-05-21 no assertion criteria provided clinical testing

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