ClinVar Miner

Submissions for variant NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg)

gnomAD frequency: 0.00006  dbSNP: rs121908318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000004868 SCV000966905 pathogenic Acroerythrokeratoderma 2018-08-29 criteria provided, single submitter clinical testing The p.Trp15Arg variant in SLURP1 has been reported 13 homozygous and 3 compound heterozygous individuals with clinical features of Mal de Meleda and segregated with disease in 9 affected releatives from at least 2 families (Eckl 2003, Nelle n 2013, Zhao 2014). This variant has been identified in 19/125816 European chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org) and has been reported in ClinVar (Variation ID 4605). In vitro functional s tudies provide some evidence that the p.Trp15Arg variant may impact protein func tion (Favre 2007). In summary, this variant meets criteria to be classified as p athogenic for autosomal recessive Mal de Meleda based upon segregation studies a nd functional evidence. ACMG/AMP criteria applied: PM3_Strong, PP1_Strong, PS3_S upporting.
OMIM RCV000004868 SCV000025044 pathogenic Acroerythrokeratoderma 2003-01-01 no assertion criteria provided literature only

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