ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1823C>A (p.Thr608Asn)

gnomAD frequency: 0.00002  dbSNP: rs761008813
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207800 SCV001379167 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 938557). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 608 of the PCARE protein (p.Thr608Asn). This variant is present in population databases (rs761008813, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PCARE-related conditions.

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