ClinVar Miner

Submissions for variant NM_001349.4(DARS1):c.1432A>C (p.Met478Leu)

gnomAD frequency: 0.00006  dbSNP: rs370805809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732581 SCV000860553 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027040 SCV004854589 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.1432A>C (p.M478L) alteration is located in exon 16 (coding exon 16) of the DARS gene. This alteration results from a A to C substitution at nucleotide position 1432, causing the methionine (M) at amino acid position 478 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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