ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.514G>A (p.Gly172Ser)

gnomAD frequency: 0.00003  dbSNP: rs74315271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672054 SCV000797113 uncertain significance Metachromatic leukodystrophy 2018-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000672054 SCV002778496 uncertain significance Metachromatic leukodystrophy 2021-08-23 criteria provided, single submitter clinical testing
Invitae RCV000672054 SCV003444462 uncertain significance Metachromatic leukodystrophy 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 172 of the ARSA protein (p.Gly172Ser). This variant is present in population databases (rs74315271, gnomAD 0.004%). This missense change has been observed in individual(s) with metachromatic leukodystrophy (PMID: 21167507). This variant is also known as c.508G>A (p.Gly170Ser). ClinVar contains an entry for this variant (Variation ID: 556103). 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: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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