ClinVar Miner

Submissions for variant NM_001352027.3(PHF21A):c.1704_1705del (p.Lys569fs)

dbSNP: rs2135027632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754048 SCV001987007 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001754048 SCV003234167 pathogenic not provided 2022-09-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1302159). This variant has not been reported in the literature in individuals affected with PHF21A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys568Valfs*3) in the PHF21A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHF21A are known to be pathogenic (PMID: 30487643).

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