ClinVar Miner

Submissions for variant NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg)

gnomAD frequency: 0.00006  dbSNP: rs764593071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Uitto Lab, Thomas Jefferson University RCV000782399 SCV000920920 likely pathogenic Congenital ichthyosis of skin 2018-06-08 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV003338790 SCV004047342 uncertain significance Ichthyosis, congenital, autosomal recessive 13 criteria provided, single submitter clinical testing The c.112G>A (p.Gly38Arg) missense variant in SDR9C7 gene has been submitted to ClinVar as a Likely Pathogenic variant, but no details are available for independent assessment. It has not been reported in affected individuals. This variant is reported with the allele frequency (0.005%) in the gnomad and novel in 1000 genome database. The amino acid Gly at position 38 is changed to a Arg changing protein sequence and it might alter its composition and physicochemical properties. The amino acid change p.Gly38Arg in SDR9C7 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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