ClinVar Miner

Submissions for variant NM_006121.4(KRT1):c.651G>C (p.Gln217His)

gnomAD frequency: 0.00039  dbSNP: rs201584652
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000977363 SCV001125279 likely benign not provided 2018-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986722 SCV005611107 uncertain significance Inborn genetic diseases 2024-06-28 criteria provided, single submitter clinical testing The c.651G>C (p.Q217H) alteration is located in exon 2 (coding exon 2) of the KRT1 gene. This alteration results from a G to C substitution at nucleotide position 651, causing the glutamine (Q) at amino acid position 217 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003396567 SCV004120169 uncertain significance KRT1-related disorder 2024-06-13 no assertion criteria provided clinical testing The KRT1 c.651G>C variant is predicted to result in the amino acid substitution p.Gln217His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.10% of alleles in individuals of African descent in gnomAD, which is likely too common for an undocumented disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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