ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) (rs72547571)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000255529 SCV000232054 pathogenic not provided 2014-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000255529 SCV000321393 pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing P315S has been reported previously in association with Sjögren-Larsson syndrome (SLS) and is a common pathogenic variant among individuals of northern European and Swedish ancestry (De Laurenzi et al., 1997). Expression studies demonstrated that this pathogenic variant leads to loss of enzymatic activity (De Laurenzi et al., 1997).
Counsyl RCV000001707 SCV000485186 pathogenic Sjögren-Larsson syndrome 2016-01-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000001707 SCV000916434 pathogenic Sjögren-Larsson syndrome 2018-12-17 criteria provided, single submitter clinical testing Variant summary: ALDH3A2 c.943C>T (p.Pro315Ser) results in a non-conservative amino acid change located in the Aldehyde dehydrogenase domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0001 in 277112 control chromosomes (gnomAD). The variant, c.943C>T, has been reported in the literature in multiple individuals affected with Sjogren-Larsson Syndrome, in particular in populations of Northern European descent (DeLaurenzi_1997). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (DeLaurenzi_1997). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000001707 SCV000021863 pathogenic Sjögren-Larsson syndrome 1999-05-01 no assertion criteria provided literature only

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