ClinVar Miner

Submissions for variant NM_006121.4(KRT1):c.612G>C (p.Gln204His)

dbSNP: rs1555171443
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658189 SCV000779960 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing The Q204H variant in the KRT1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q204H variant is not observed in large population cohorts, indicating it is not a common polymorphisms (Lek et al., 2016). The Q204H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Nevertheless, while Q204H is located in the conserved 1A region of the alpha-helical rod domain, it lies outside the mutational hotspot at the helix initiation motif. Therefore, we interpret Q204H as a variant of uncertain significance.

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