ClinVar Miner

Submissions for variant NM_000526.5(KRT14):c.830G>T (p.Gly277Val)

dbSNP: rs2144583128
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808915 SCV002059171 uncertain significance Epidermolysis bullosa simplex 1C, localized 2022-01-03 criteria provided, single submitter clinical testing The variant is located in a well-established functional domain or exonic hotspot, where pathogenic variants have frequently reported (PM1_M). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). A missense variant is a common mechanism associated with Epidermolysis bullosa simplex (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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