ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) (rs72547575)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001711 SCV000798553 likely pathogenic Sjögren-Larsson syndrome 2018-03-13 criteria provided, single submitter clinical testing
Invitae RCV000793431 SCV000932783 pathogenic not provided 2020-02-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 386 of the ALDH3A2 protein (p.Asn386Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs72547575, ExAC 0.02%). This variant has been observed in several individuals and families affected with ALDH3A2-related conditions (PMID: 10792573, 29071827, 29159939, 21531120, 23450279). ClinVar contains an entry for this variant (Variation ID: 1644). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001711 SCV000021867 pathogenic Sjögren-Larsson syndrome 2000-05-01 no assertion criteria provided literature only
Natera, Inc. RCV000001711 SCV001463377 pathogenic Sjögren-Larsson syndrome 2020-09-16 no assertion criteria provided clinical testing

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