ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.499G>A (p.Val167Met)

gnomAD frequency: 0.00008  dbSNP: rs200882008
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198924 SCV000251194 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002492899 SCV002791077 uncertain significance Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 2022-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000198924 SCV003446794 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 167 of the BCS1L protein (p.Val167Met). This variant is present in population databases (rs200882008, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. 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: 214161). 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. 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.
Ambry Genetics RCV004601126 SCV005098499 uncertain significance Inborn genetic diseases 2024-04-01 criteria provided, single submitter clinical testing The c.499G>A (p.V167M) alteration is located in exon 5 (coding exon 3) of the BCS1L gene. This alteration results from a G to A substitution at nucleotide position 499, causing the valine (V) at amino acid position 167 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833143 SCV002076350 uncertain significance GRACILE syndrome 2019-11-11 no assertion criteria provided clinical testing

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