ClinVar Miner

Submissions for variant NM_005548.3(KARS1):c.421A>C (p.Lys141Gln)

dbSNP: rs761347066
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003318463 SCV004021284 uncertain significance Autosomal recessive nonsyndromic hearing loss 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness 2022-05-02 criteria provided, single submitter clinical testing The c.505A>C variant is not present in publicly available population databases like, 1000 Genomes, EVS and Indian Exome Database. The heterozygous state of the variant is present in ExAC and gnomAD, at a low frequency. The variant is not present in our in-house exome database. The variant was not previously reported to Clinvar, HGMD and/or OMIM database, in any affected individuals. In-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD etc. predicted this variant to be likely disease causing, however these predictions were not confirmed by any published functional studies. This variant has been identified in an individual as a part of carrier screening in view of early deaths of two previous offspring with noted abnormalities.

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