ClinVar Miner

Submissions for variant NM_176810.2(NLRP13):c.2110G>A (p.Glu704Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004826998 SCV005459256 uncertain significance not specified 2024-11-25 criteria provided, single submitter clinical testing The c.2110G>A (p.E704K) alteration is located in exon 5 (coding exon 5) of the NLRP13 gene. This alteration results from a G to A substitution at nucleotide position 2110, causing the glutamic acid (E) at amino acid position 704 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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