ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)

dbSNP: rs121908572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665386 SCV000789501 likely pathogenic GRACILE syndrome 2017-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001062637 SCV001227451 pathogenic not provided 2022-01-18 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: 11528392, 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: 6164). This missense change has been observed in individuals with complex III deficiency or GRACILE syndrome (PMID: 11528392, 20518024, 24655110, 29090881). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 99 of the BCS1L protein (p.Pro99Leu).
Baylor Genetics RCV003472985 SCV004210825 pathogenic Pili torti-deafness syndrome 2023-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001062637 SCV005434033 pathogenic not provided 2024-11-01 criteria provided, single submitter clinical testing BCS1L: PM1, PM2, PM3, PP4:Moderate, PP3, PS3:Supporting
OMIM RCV000006539 SCV000026722 pathogenic Mitochondrial complex III deficiency nuclear type 1 2001-09-01 no assertion criteria provided literature only

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