ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.632T>C (p.Val211Ala)

gnomAD frequency: 0.00002  dbSNP: rs1291966839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000697169 SCV000825766 uncertain significance Charcot-Marie-Tooth disease type 2 2023-06-23 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 147 of the BSCL2 protein (p.Val147Ala). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BSCL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 575066). 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 RCV002332464 SCV002631883 uncertain significance Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing The p.V147A variant (also known as c.440T>C), located in coding exon 4 of the BSCL2 gene, results from a T to C substitution at nucleotide position 440. The valine at codon 147 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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