ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.801_802delinsAA (p.Gln268Lys)

dbSNP: rs2148416727
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360190 SCV001556094 uncertain significance not provided 2020-08-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 268 of the PCARE protein (p.Gln268Lys). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and lysine. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PCARE-related conditions.

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