ClinVar Miner

Submissions for variant NM_144687.4(NLRP12):c.1820A>C (p.Gln607Pro)

gnomAD frequency: 0.00010  dbSNP: rs370229918
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000905110 SCV001049675 likely benign Familial cold autoinflammatory syndrome 2 2024-01-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264076 SCV002542467 uncertain significance Autoinflammatory syndrome 2019-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910814 SCV004724418 uncertain significance NLRP12-related disorder 2023-11-09 criteria provided, single submitter clinical testing The NLRP12 c.1820A>C variant is predicted to result in the amino acid substitution p.Gln607Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-54313093-T-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004028555 SCV004989657 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.1820A>C (p.Q607P) 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 1820, causing the glutamine (Q) at amino acid position 607 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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