ClinVar Miner

Submissions for variant NM_001145678.3(KIAA0825):c.1627C>T (p.Pro543Ser)

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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 RCV004081969 SCV003531549 uncertain significance not specified 2021-07-09 criteria provided, single submitter clinical testing The c.1627C>T (p.P543S) alteration is located in exon 9 (coding exon 7) of the KIAA0825 gene. This alteration results from a C to T substitution at nucleotide position 1627, causing the proline (P) at amino acid position 543 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003973732 SCV004795197 likely benign KIAA0825-related disorder 2022-04-01 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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