ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2432C>T (p.Pro811Leu)

gnomAD frequency: 0.00003  dbSNP: rs750889767
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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 RCV000979165 SCV001127104 benign not provided 2024-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030017 SCV003572280 uncertain significance not specified 2021-07-20 criteria provided, single submitter clinical testing The c.2432C>T (p.P811L) alteration is located in exon 3 (coding exon 2) of the KIAA2022 gene. This alteration results from a C to T substitution at nucleotide position 2432, causing the proline (P) at amino acid position 811 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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