ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2215C>G (p.His739Asp)

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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 RCV003001810 SCV003294585 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 739 of the VPS13A protein (p.His739Asp). This variant is present in population databases (rs374188914, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with VPS13A-related conditions. ClinVar contains an entry for this variant (Variation ID: 2080286). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt VPS13A protein function with a positive 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 RCV004963337 SCV005531661 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The c.2215C>G (p.H739D) alteration is located in exon 22 (coding exon 22) of the VPS13A gene. This alteration results from a C to G substitution at nucleotide position 2215, causing the histidine (H) at amino acid position 739 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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