ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser)

gnomAD frequency: 0.00002  dbSNP: rs1450517934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816051 SCV000956540 benign not provided 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000816051 SCV001791249 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028874 SCV003672951 uncertain significance not specified 2022-12-19 criteria provided, single submitter clinical testing The c.2357C>G (p.T786S) alteration is located in exon 3 (coding exon 2) of the KIAA2022 gene. This alteration results from a C to G substitution at nucleotide position 2357, causing the threonine (T) at amino acid position 786 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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