ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del)

dbSNP: rs779289896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822775 SCV000963592 uncertain significance Usher syndrome type 3B 2024-09-05 criteria provided, single submitter clinical testing This variant, c.1255_1257del, results in the deletion of 1 amino acid(s) of the HARS protein (p.Lys419del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779289896, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with HARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 664641). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV004029115 SCV002755845 uncertain significance not specified 2021-05-19 criteria provided, single submitter clinical testing The c.1255_1257delAAG variant (also known as p.K419del) is located in coding exon 11 of the HARS gene. This variant results from an in-frame AAG deletion at nucleotide positions 1255 to 1257. This results in the in-frame deletion of a lysine at codon 419. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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