ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.128T>A (p.Ile43Asn)

gnomAD frequency: 0.00006  dbSNP: rs781030435
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791044 SCV000930312 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791045 SCV000930313 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2A 2019-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535826 SCV003510727 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 43 of the HEPACAM protein (p.Ile43Asn). This variant is present in population databases (rs781030435, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HEPACAM-related conditions. ClinVar contains an entry for this variant (Variation ID: 638399). 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 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.
GeneDx RCV002535826 SCV003798619 uncertain significance not provided 2022-08-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004027382 SCV004879455 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.128T>A (p.I43N) alteration is located in exon 2 (coding exon 2) of the HEPACAM gene. This alteration results from a T to A substitution at nucleotide position 128, causing the isoleucine (I) at amino acid position 43 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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