ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.551G>A (p.Arg184His)

gnomAD frequency: 0.00003  dbSNP: rs779504946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001991269 SCV002266960 likely pathogenic not provided 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 184 of the BCS1L protein (p.Arg184His). This variant is present in population databases (rs779504946, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BCS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1480327). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BCS1L protein function. This variant disrupts the p.Arg184 amino acid residue in BCS1L. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17314340, 20518024, 30582773). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV001991269 SCV004028423 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing 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: Gandelman[article]2020, 17314340, 17403714, 30582773)

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