ClinVar Miner

Submissions for variant NM_014003.4(DHX38):c.1661T>C (p.Val554Ala)

gnomAD frequency: 0.00010  dbSNP: rs374496350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065294 SCV001230250 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 554 of the DHX38 protein (p.Val554Ala). This variant is present in population databases (rs374496350, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of DHX38-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 859228). 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 expected to disrupt DHX38 protein function. 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.
Dept Of Ophthalmology, Nagoya University RCV003890216 SCV004706100 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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