ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1196C>T (p.Ala399Val)

gnomAD frequency: 0.00428  dbSNP: rs34732372
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559035 SCV000652288 benign Usher syndrome type 3B 2024-01-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825070 SCV000966302 benign not specified 2018-08-08 criteria provided, single submitter clinical testing The p.Ala399Val variant in HARS is classified as benign because it has been iden tified in 1.5% (372/24022) of African chromosomes inclusing 4 homozygotes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs 34732372). ACMG/AMP Criteria applied: BA1, BP4.
GeneDx RCV001567640 SCV001791363 benign not provided 2022-04-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge

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