ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2118+988G>A (rs556040424)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589503 SCV000696475 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing Variant summary: The PCCA c.2118+988G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/30966 control chromosomes in gnomAD whole genome sequencing data at a frequency of 0.0000969, which does not exceed the estimated maximal expected allele frequency of a pathogenic PCCA variant (0.003446). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.

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