ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser)

gnomAD frequency: 0.00002  dbSNP: rs28940568
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441701 SCV004168789 likely pathogenic not provided 2023-04-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 10094194, 30916489, 21729033, 28236338, 12915478, 36980989, 25766764)
Invitae RCV003441701 SCV004293942 pathogenic not provided 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1651 of the ABCA12 protein (p.Gly1651Ser). This variant is present in population databases (rs28940568, gnomAD 0.007%). This missense change has been observed in individual(s) with lamellar ichthyosis (PMID: 12915478, 21729033). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2856). 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 ABCA12 protein function. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002990 SCV000023148 pathogenic Autosomal recessive congenital ichthyosis 4A 2003-09-15 no assertion criteria provided literature only
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003988819 SCV004805552 uncertain significance Autosomal recessive congenital ichthyosis 4B 2024-03-25 flagged submission research

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