ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.290C>T (p.Ser97Leu)

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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 RCV005128125 SCV005751022 uncertain significance Dilated cardiomyopathy 1W 2024-04-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 97 of the VCL protein (p.Ser97Leu). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV005291172 SCV005959302 uncertain significance Cardiovascular phenotype 2025-01-29 criteria provided, single submitter clinical testing The c.290C>T (p.S97L) alteration is located in exon 3 (coding exon 3) of the VCL gene. This alteration results from a C to T substitution at nucleotide position 290, causing the serine (S) at amino acid position 97 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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