ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.96G>C (p.Glu32Asp)

gnomAD frequency: 0.00003  dbSNP: rs768700664
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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 RCV001964487 SCV002133843 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1367723). 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. 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 HEPACAM protein function. This variant has not been reported in the literature in individuals affected with HEPACAM-related conditions. This variant is present in population databases (rs768700664, gnomAD 0.2%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 32 of the HEPACAM protein (p.Glu32Asp).
Fulgent Genetics, Fulgent Genetics RCV002503430 SCV002816722 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1; Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 2021-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001964487 SCV005385937 uncertain significance not provided 2024-02-02 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

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