ClinVar Miner

Submissions for variant NM_020427.3(SLURP1):c.211C>T (p.Arg71Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003388927 SCV005061088 uncertain significance Acroerythrokeratoderma criteria provided, single submitter clinical testing The observed missense c.211C>T(p.Arg71Cys) variant in SLURP1 gene has been reported previously in homozygous state in individual(s) affected with mal de Meleda (MDM) disease (Radiono S, et al., 2017; Karaca Z, et al., 2021). The p.Arg71Cys variant has been reported with allele frequency of 0.0004% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The amino acid Arg at position 71 is changed to a Cys changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).
Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University RCV003388927 SCV003921121 pathogenic Acroerythrokeratoderma no assertion criteria provided clinical testing

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