ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.709dup (p.Met237fs)

dbSNP: rs2549214790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002367323 SCV002662601 uncertain significance Cardiovascular phenotype 2021-09-30 criteria provided, single submitter clinical testing The c.709dupA variant, located in coding exon 6 of the VCL gene, results from a duplication of A at nucleotide position 709, causing a translational frameshift with a predicted alternate stop codon (p.M237Nfs*4). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of VCL has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005097063 SCV005839060 uncertain significance Dilated cardiomyopathy 1W 2024-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met237Asnfs*4) in the VCL gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in VCL cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1757138). 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.

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