ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.962A>C (p.Glu321Ala)

dbSNP: rs2092055408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262149 SCV002542578 uncertain significance Autoinflammatory syndrome 2021-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003095949 SCV003609672 uncertain significance Inborn genetic diseases 2022-04-01 criteria provided, single submitter clinical testing The c.962A>C (p.E321A) alteration is located in exon 3 (coding exon 3) of the NLRP12 gene. This alteration results from a A to C substitution at nucleotide position 962, causing the glutamic acid (E) at amino acid position 321 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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