ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.172A>G (p.Lys58Glu) (rs201392711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197397 SCV000251607 likely pathogenic not provided 2014-05-19 criteria provided, single submitter clinical testing p.Lys58Glu (AAG>GAG): c.172 A>G in exon 2 of the HARS2 gene (NM_012208.2). The K58E missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid substitution is non-conservative in that a positively charged Lysine residue is replaced by a negatively charged Glutamic acid residue. This change occurs at a position that is highly conserved in the HARS2 protein and in silico analysis predict K58E is likely damaging to the structure/function of the protein. Therefore, K58E is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).
Molecular Genetics Laboratory,University Hospital Copenhagen RCV000782168 SCV000920636 likely pathogenic Perrault syndrome 2 2019-05-20 no assertion criteria provided clinical testing Variant detected as compound heterozygous, together with c.448C>T in three siblings (two girls) with progressive sensorineural hearing impairment. Signs of premature ovarian failure were uncertain due to their young age.

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