Submissions for variant NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	RCV003334454	SCV004042827	uncertain significance	46,XY sex reversal 11	2023-10-06	criteria provided, single submitter	clinical testing	The c.499_500delinsTC variant is not present in publicly available population databases like 1000 Genomes, ExAC, EVS, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature for DHX37-related conditions nor reported to the clinical databases like Human Genome Mutation Database (HGMD), ClinVar or OMIM in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. This variant causes substitution of Glutamic acid at the 167th amino acid position with Serine.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000853099	SCV000995954	likely pathogenic	Intellectual disability; Neurodevelopmental delay	2019-05-30	no assertion criteria provided	research
OMIM	RCV000991237	SCV001142633	pathogenic	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	2020-02-05	no assertion criteria provided	literature only
University of Washington Center for Mendelian Genomics, University of Washington	RCV001261671	SCV001438976	likely pathogenic	Neurodevelopmental disorders		no assertion criteria provided	research