ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672596 SCV000797711 likely pathogenic Sjögren-Larsson syndrome 2018-02-07 criteria provided, single submitter clinical testing
Invitae RCV001383429 SCV001582570 pathogenic not provided 2020-03-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 228 of the ALDH3A2 protein (p.Arg228Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Sjögren–Larsson syndrome (PMID: 28257279, 28471629, 10577908, 30925032, 27717089). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 556574). This variant has been reported to affect ALDH3A2 protein function (PMID: 10577908). This variant disrupts the p.Arg228 amino acid residue in ALDH3A2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29704247, 22397046). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Sharon lab,Hadassah-Hebrew University Medical Center RCV000672596 SCV001160895 likely pathogenic Sjögren-Larsson syndrome 2019-06-23 no assertion criteria provided research

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