ClinVar Miner

Submissions for variant NM_152722.5(HEPACAM):c.769G>C (p.Val257Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003315086 SCV004013437 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 2023-07-17 criteria provided, single submitter clinical testing A heterozygous missense variant in Exon 4 of the HEPACAM gene that results in the amino acid substitution of Leucine for Valine at codon 257 (p.Val257Leu) was detected. The p.Val257Leu variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2) and topmed databases. The in silico predictions of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT and LRT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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