ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1891A>G (p.Thr631Ala)

gnomAD frequency: 0.00005  dbSNP: rs200677089
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Total submissions: 2
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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).
CeGaT Center for Human Genetics Tuebingen RCV003405267 SCV004141178 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing PARN: PP2, BP4

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