ClinVar Miner

Submissions for variant NM_005337.5(NCKAP1L):c.2243T>A (p.Ile748Asn)

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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 RCV004327650 SCV003993766 uncertain significance not specified 2023-06-07 criteria provided, single submitter clinical testing The c.2243T>A (p.I748N) alteration is located in exon 21 (coding exon 21) of the NCKAP1L gene. This alteration results from a T to A substitution at nucleotide position 2243, causing the isoleucine (I) at amino acid position 748 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012857 SCV005636868 uncertain significance Immunodeficiency 72 with autoinflammation 2024-06-04 criteria provided, single submitter clinical testing

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