ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410901 SCV000486749 likely pathogenic Sjögren-Larsson syndrome 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV001216194 SCV001387976 pathogenic not provided 2020-03-28 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 365 of the ALDH3A2 protein (p.Ser365Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Sjogren-Larsson syndrome (PMID: 9829906, 17902024, 31273323). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 371221). This variant has been reported to substantially decrease the activity of the ALDH3A2 protein in patient cells and mammalian cell lines (PMID: 19965611). For these reasons, this variant has been classified as Pathogenic.

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