ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.298A>G (p.Ile100Val)

gnomAD frequency: 0.00071  dbSNP: rs150677758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332910 SCV001525353 uncertain significance Hydatidiform mole, recurrent, 1 2020-02-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035752 SCV004992210 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.298A>G (p.I100V) alteration is located in exon 3 (coding exon 2) of the NLRP7 gene. This alteration results from a A to G substitution at nucleotide position 298, causing the isoleucine (I) at amino acid position 100 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003918859 SCV004728189 likely benign NLRP7-related disorder 2023-04-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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