ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.352C>A (p.Leu118Met)

gnomAD frequency: 0.00060  dbSNP: rs147081122
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701253 SCV000830044 likely benign Atrial fibrillation, familial, 6 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780552 SCV000917913 likely benign not specified 2017-11-06 criteria provided, single submitter clinical testing Variant summary: The NPPA c.352C>A (p.Leu118Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 54/275440 control chromosomes in gnomAD at a frequency of 0.000196, which is approximately 20 times the estimated maximal expected allele frequency of a pathogenic NPPA variant (0.00001), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV001535777 SCV005256894 likely benign not provided criteria provided, single submitter not provided
GenomeConnect - Invitae Patient Insights Network RCV001535777 SCV001749931 not provided not provided no assertion provided phenotyping only Variant interpreted as Likely benign and reported on 06-13-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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