ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)

dbSNP: rs746178942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003738088 SCV004551644 pathogenic not provided 2023-02-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs746178942, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1171022). This premature translational stop signal has been observed in individual(s) with SLC27A4-related conditions (PMID: 30536735, 31681265). This sequence change creates a premature translational stop signal (p.Gly442Argfs*2) in the SLC27A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC27A4 are known to be pathogenic (PMID: 19631310, 21450060).
OMIM RCV001523896 SCV001733630 pathogenic Ichthyosis prematurity syndrome 2021-08-17 no assertion criteria provided literature only

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