ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.709G>A (p.Ala237Thr)

gnomAD frequency: 0.00003  dbSNP: rs771897965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002541671 SCV003690304 uncertain significance Inborn genetic diseases 2021-04-28 criteria provided, single submitter clinical testing The c.709G>A (p.A237T) alteration is located in exon 9 (coding exon 9) of the RARS2 gene. This alteration results from a G to A substitution at nucleotide position 709, causing the alanine (A) at amino acid position 237 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278029 SCV001465021 uncertain significance Pontocerebellar hypoplasia type 6 2020-09-04 no assertion criteria provided clinical testing

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