ClinVar Miner

Submissions for variant NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu)

dbSNP: rs1956891911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001254327 SCV001571383 likely pathogenic Immunodeficiency 72 with autoinflammation 2021-04-13 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Immunodeficiency 72 with autoinflammation, autosomal recessive. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Well-established functional studies show a deleterious effect (PS3); For recessive disorders, detected in trans with a likely pathogenic/pathogenic variant (PM3 downgraded to supporting).
OMIM RCV001254327 SCV001430309 pathogenic Immunodeficiency 72 with autoinflammation 2023-03-15 no assertion criteria provided literature only

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