ClinVar Miner

Submissions for variant NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile)

gnomAD frequency: 0.00001  dbSNP: rs121434438
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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 RCV000007262 SCV002225093 uncertain significance Heterotaxy, visceral, 4, autosomal 2021-08-03 criteria provided, single submitter clinical testing 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 ACVR2B protein function. ClinVar contains an entry for this variant (Variation ID: 6859). This missense change has been observed in individual(s) with ACVR2B-related conditions (PMID: 9916847). This variant is present in population databases (rs121434438, ExAC 0.004%). This sequence change replaces valine with isoleucine at codon 494 of the ACVR2B protein (p.Val494Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine.
Breakthrough Genomics, Breakthrough Genomics RCV004691718 SCV005189881 uncertain significance not provided criteria provided, single submitter not provided
OMIM RCV000007262 SCV000027458 pathogenic Heterotaxy, visceral, 4, autosomal 1999-01-01 no assertion criteria provided literature only

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