ClinVar Miner

Submissions for variant NM_001014437.3(CARS1):c.2257C>T (p.Arg753Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004898358 SCV005546781 uncertain significance not specified 2024-11-14 criteria provided, single submitter clinical testing The c.2257C>T (p.R753W) alteration is located in exon 21 (coding exon 21) of the CARS gene. This alteration results from a C to T substitution at nucleotide position 2257, causing the arginine (R) at amino acid position 753 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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