ClinVar Miner

Submissions for variant NM_001383.6(DPH1):c.320A>G (p.Tyr107Cys)

gnomAD frequency: 0.00001  dbSNP: rs772969956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001823194 SCV002072656 likely pathogenic not provided 2024-09-09 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect, including reduced ADP-ribosylation of eEF2 and a reduction of enzyme activity (PMID: 37675463, 30877278); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30877278, 33704902, 37675463)
OMIM RCV004570673 SCV001482437 pathogenic Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 2022-09-30 no assertion criteria provided literature only

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