ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) (rs398123418)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723561 SCV000110817 pathogenic not provided 2012-11-26 criteria provided, single submitter clinical testing
Counsyl RCV000078952 SCV000795874 likely pathogenic Metachromatic leukodystrophy 2017-11-21 criteria provided, single submitter clinical testing
Invitae RCV000078952 SCV001209958 likely pathogenic Metachromatic leukodystrophy 2020-02-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 329 of the ARSA protein (p.Thr329Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another ARSA variant in several individuals affected with metachromatic leukodystrophy (PMID: 10477432). This variant is also known as T327I in the literature. ClinVar contains an entry for this variant (Variation ID: 93128). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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