ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) (rs768076848)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699134 SCV000827831 likely benign Usher syndrome, type 3B 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000572 SCV001157536 uncertain significance not specified 2019-06-17 criteria provided, single submitter clinical testing The HARS c.679T>G; p.Ser227Ala variant has been reported once in a CMT patient who carried a second variant of the same gene (Lupo 2016). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.09 percent in the Latino population (identified on 31 out of 35,428 chromosomes) and has been reported to the ClinVar database (ClinVar ID: 576600). The serine at position 227 is weakly conserved and computational analyses of the effects of the p.Ser227Ala variant on protein structure and function is conflicting (SIFT: damaging, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Ser227Ala variant with certainty.

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