ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.1430T>A (p.Val477Asp)

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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 RCV002932485 SCV003260338 likely pathogenic not provided 2024-02-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 477 of the SLC27A4 protein (p.Val477Asp). This variant is present in population databases (rs147688821, gnomAD 0.006%). This missense change has been observed in individuals with ichthyosis prematurity syndrome (PMID: 21450060, 24889544). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2052115). 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 SLC27A4 protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005050657 SCV005679937 likely pathogenic Ichthyosis prematurity syndrome 2024-05-08 criteria provided, single submitter clinical testing

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