ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.355C>G (p.Leu119Val)

dbSNP: rs1569081347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803498 SCV000943375 uncertain significance Metachromatic leukodystrophy 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 119 of the ARSA protein (p.Leu119Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARSA-related conditions. ClinVar contains an entry for this variant (Variation ID: 648707). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000803498 SCV002081678 uncertain significance Metachromatic leukodystrophy 2020-04-06 no assertion criteria provided clinical testing

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