ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.968A>C (p.His323Pro)

gnomAD frequency: 0.00002  dbSNP: rs545353558
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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 RCV002874182 SCV003630309 uncertain significance Inborn genetic diseases 2022-07-13 criteria provided, single submitter clinical testing The c.968A>C (p.H323P) alteration is located in exon 5 (coding exon 5) of the ARSA gene. This alteration results from a A to C substitution at nucleotide position 968, causing the histidine (H) at amino acid position 323 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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