ClinVar Miner

Submissions for variant NM_032656.4(DHX37):c.985G>A (p.Val329Ile)

gnomAD frequency: 0.00039  dbSNP: rs112262509
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331507 SCV001523554 uncertain significance Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 2020-06-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002272450 SCV002558137 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002272450 SCV003263447 uncertain significance not provided 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 329 of the DHX37 protein (p.Val329Ile). This variant is present in population databases (rs112262509, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DHX37-related conditions. ClinVar contains an entry for this variant (Variation ID: 1030049). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DHX37 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989681 SCV004806410 likely benign 46,XY sex reversal 11 2024-03-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002272450 SCV005192055 uncertain significance not provided criteria provided, single submitter not provided

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