ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)

gnomAD frequency: 0.00001  dbSNP: rs1280810181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383887 SCV001583207 pathogenic not provided 2023-08-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects BCS1L function (PMID: 17314340). 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 expected to disrupt BCS1L protein function. ClinVar contains an entry for this variant (Variation ID: 1071417). This missense change has been observed in individual(s) with Björnstad syndrome (PMID: 17314340, 28105683). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 306 of the BCS1L protein (p.Arg306His).
Revvity Omics, Revvity RCV001383887 SCV002022037 likely pathogenic not provided 2020-07-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499798 SCV002782008 likely pathogenic Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 2022-05-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473948 SCV004210816 pathogenic Pili torti-deafness syndrome 2023-04-10 criteria provided, single submitter clinical testing

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