ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.229G>A (p.Ala77Thr)

gnomAD frequency: 0.00001  dbSNP: rs752251563
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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 RCV001401405 SCV001603228 likely benign Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2024-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV005260463 SCV005928982 uncertain significance Inborn genetic diseases 2025-02-22 criteria provided, single submitter clinical testing The c.229G>A (p.A77T) alteration is located in exon 2 (coding exon 2) of the QARS gene. This alteration results from a G to A substitution at nucleotide position 229, causing the alanine (A) at amino acid position 77 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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