ClinVar Miner

Submissions for variant NM_002417.5(MKI67):c.586G>T (p.Ala196Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004422188 SCV004905667 uncertain significance not specified 2023-12-16 criteria provided, single submitter clinical testing The c.586G>T (p.A196S) alteration is located in exon 7 (coding exon 6) of the MKI67 gene. This alteration results from a G to T substitution at nucleotide position 586, causing the alanine (A) at amino acid position 196 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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