ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.1A>G (p.Met1Val)

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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 RCV003557486 SCV004295575 pathogenic not provided 2025-01-20 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the SLC27A4 mRNA. The next in-frame methionine is located at codon 133. This variant is present in population databases (rs142366975, gnomAD 0.01%). Disruption of the initiator codon has been observed in individual(s) with ichthyosis prematurity syndrome (PMID: 21690550, 34720920). ClinVar contains an entry for this variant (Variation ID: 2735354). This variant disrupts a region of the SLC27A4 protein in which other variant(s) (p.Arg51His) have been observed in individuals with SLC27A4-related conditions (internal data). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005047688 SCV005679929 pathogenic Ichthyosis prematurity syndrome 2024-04-27 criteria provided, single submitter clinical testing

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