ClinVar Miner

Submissions for variant NM_175053.4(KRT74):c.850G>A (p.Ala284Thr)

gnomAD frequency: 0.00015  dbSNP: rs139463422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000917743 SCV001063033 benign not provided 2018-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029419 SCV003758069 uncertain significance not specified 2022-07-26 criteria provided, single submitter clinical testing The c.850G>A (p.A284T) alteration is located in exon 5 (coding exon 5) of the KRT74 gene. This alteration results from a G to A substitution at nucleotide position 850, causing the alanine (A) at amino acid position 284 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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