ClinVar Miner

Submissions for variant NM_005321.3(H1-4):c.365dup (p.Ala123fs)

dbSNP: rs768525914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253099 SCV001428630 pathogenic Rahman syndrome 2021-10-19 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1_STR, PS2, PM2_SUP, PS4_MOD
GeneDx RCV002276670 SCV002567500 pathogenic not provided 2022-02-15 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 97 amino acids are replaced with 72 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31400068)
GeneReviews RCV001253099 SCV001468679 not provided Rahman syndrome no assertion provided literature only
GenomeConnect - HIST1H1E, HIST1H1E RCV002508301 SCV002818106 not provided HIST1H1E-related neurodevelopmental disorder with multiple anomalies no assertion provided phenotyping only Variant classified as Pathogenic and reported on 02-22-2022 by Lab or GTR ID 26957. GenomeConnect-HIST1H1E assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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