ClinVar Miner

Submissions for variant NM_000421.5(KRT10):c.1373+1G>A

dbSNP: rs587776816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000015683 SCV003841767 pathogenic Congenital reticular ichthyosiform erythroderma 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported to be associated with KRT10 related disorder (PMID: 20798280). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000015683 SCV000035948 pathogenic Congenital reticular ichthyosiform erythroderma 2010-10-01 no assertion criteria provided literature only

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