ClinVar Miner

Submissions for variant NM_001271458.2(POU2AF3):c.614C>T (p.Ser205Leu)

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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 RCV004664755 SCV005150727 uncertain significance not specified 2024-05-24 criteria provided, single submitter clinical testing The c.323C>T (p.S108L) alteration is located in exon 5 (coding exon 2) of the COLCA2 gene. This alteration results from a C to T substitution at nucleotide position 323, causing the serine (S) at amino acid position 108 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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