ClinVar Miner

Submissions for variant NM_002273.4(KRT8):c.1412G>A (p.Gly471Glu)

gnomAD frequency: 0.00004  dbSNP: rs386834222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004018966 SCV004895025 uncertain significance not specified 2024-01-02 criteria provided, single submitter clinical testing The c.1412G>A (p.G471E) alteration is located in exon 8 (coding exon 8) of the KRT8 gene. This alteration results from a G to A substitution at nucleotide position 1412, causing the glycine (G) at amino acid position 471 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
STRNAD Lab, University Hospital of Ulm RCV000049581 SCV000082641 not provided Hepatitis C virus, susceptibility to no assertion provided not provided

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