ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)

dbSNP: rs763485353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668573 SCV000793198 uncertain significance Propionic acidemia 2017-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668573 SCV002286660 uncertain significance Propionic acidemia 2021-09-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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. 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 affected with PCCB-related conditions. This variant is present in population databases (rs763485353, ExAC 0.001%). This variant, c.298_303del, results in the deletion of 2 amino acid(s) of the PCCB protein (p.Asn100_Lys101del), but otherwise preserves the integrity of the reading frame.

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