ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) (rs144322728)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650140 SCV000771977 uncertain significance Usher syndrome, type 3B 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 356 of the HARS protein (p.Ser356Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs144322728, ExAC 0.001%). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 29235198). ClinVar contains an entry for this variant (Variation ID: 446301). This variant has been reported to affect HARS protein function (PMID: 29235198). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Antonellis Laboratory at Michigan,University of Michigan RCV000515536 SCV000611614 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2w no assertion criteria provided in vitro

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