ClinVar Miner

Submissions for variant NM_002283.4(KRT85):c.190C>A (p.Pro64Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004166800 SCV003663015 uncertain significance not specified 2022-01-31 criteria provided, single submitter clinical testing The c.190C>A (p.P64T) alteration is located in exon 1 (coding exon 1) of the KRT85 gene. This alteration results from a C to A substitution at nucleotide position 190, causing the proline (P) at amino acid position 64 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003546913 SCV004271928 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963747 SCV004779837 likely benign KRT85-related disorder 2023-01-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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