ClinVar Miner

Submissions for variant NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter)

gnomAD frequency: 0.00480  dbSNP: rs76274604
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000223971 SCV000280938 benign not provided 2015-05-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454907 SCV000539911 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258284 SCV001435210 benign Spermatogenic Failure criteria provided, single submitter research The heterozygous c.Lys108Ter variant in NLRP14 has been identified in an individual with azoospermia or severe oligozoospermia (PMID: 16931801), but has also been identified in >7% of Latino chromosomes and 34 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive spermatogenic failure.
GeneDx RCV000223971 SCV001950682 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20981092, 22344438, 25525159, 16931801, 27535533)
Breakthrough Genomics, Breakthrough Genomics RCV000223971 SCV005322186 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003977632 SCV004798988 benign NLRP14-related disorder 2019-10-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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