Total submissions: 2
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 |