ClinVar Miner

Submissions for variant NM_032656.4(DHX37):c.2713G>A (p.Glu905Lys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003071519 SCV003453607 uncertain significance not provided 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 905 of the DHX37 protein (p.Glu905Lys). This variant is present in population databases (rs369804720, 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: 2145601). 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.
Ambry Genetics RCV004070375 SCV004855808 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.2713G>A (p.E905K) alteration is located in exon 21 (coding exon 21) of the DHX37 gene. This alteration results from a G to A substitution at nucleotide position 2713, causing the glutamic acid (E) at amino acid position 905 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV004725502 SCV005328923 likely benign Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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