ClinVar Miner

Submissions for variant NM_021926.4(ALX4):c.793C>T (p.Arg265Ter)

dbSNP: rs267606653
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623177 SCV000740897 pathogenic Inborn genetic diseases 2015-05-15 criteria provided, single submitter clinical testing
GeneDx RCV001650830 SCV001871021 pathogenic not provided 2022-05-31 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus demonstrated to result in protein truncation (Kayserili et al., 2009); Published functional studies demonstrate a damaging effect: protein mislocalization in COS7 cells, altered epidermal differentiation and junctional beta-catenin expression in cells from homozygous individuals (Kayserili et al., 2009); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 24668755, 19692347, 27975139, 34426522)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001650830 SCV002051526 pathogenic not provided 2020-12-21 criteria provided, single submitter clinical testing PVS1, PS4, PM2
OMIM RCV000005323 SCV000025501 pathogenic Frontonasal dysplasia with alopecia and genital anomaly 2009-11-15 no assertion criteria provided literature only

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