ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.588C>T (p.Cys196=)

gnomAD frequency: 0.07468  dbSNP: rs2230361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214979 SCV000269141 benign not specified 2016-02-04 criteria provided, single submitter clinical testing p.Cys196Cys in exon 6 of HARS: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 8% (9547/121084) of pan ethnic chromosomes including over 400 homozygous individuals by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2230361).
GeneDx RCV000214979 SCV000716975 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001518405 SCV001727088 benign Usher syndrome type 3B 2025-02-04 criteria provided, single submitter clinical testing

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