ClinVar Miner

Submissions for variant NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val)

gnomAD frequency: 0.00008  dbSNP: rs200915130
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001164066 SCV001326162 likely benign Stargardt disease 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001220954 SCV001392969 uncertain significance not provided 2024-06-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 104 of the ELOVL4 protein (p.Ala104Val). This variant is present in population databases (rs200915130, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ELOVL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 911550). 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 not expected to disrupt ELOVL4 protein function with a negative predictive value of 80%. 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 RCV002559572 SCV003731788 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.311C>T (p.A104V) alteration is located in exon 3 (coding exon 3) of the ELOVL4 gene. This alteration results from a C to T substitution at nucleotide position 311, causing the alanine (A) at amino acid position 104 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001220954 SCV005332628 uncertain significance not provided 2023-12-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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