ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.325G>A (p.Val109Met)

gnomAD frequency: 0.00004  dbSNP: rs746259972
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416118 SCV000493603 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV001224892 SCV001397119 uncertain significance Metachromatic leukodystrophy 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 109 of the ARSA protein (p.Val109Met). This variant is present in population databases (rs746259972, gnomAD 0.02%). 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: 374717). 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.
Fulgent Genetics, Fulgent Genetics RCV001224892 SCV002792508 uncertain significance Metachromatic leukodystrophy 2022-03-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521481 SCV003732180 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.325G>A (p.V109M) alteration is located in exon 2 (coding exon 2) of the ARSA gene. This alteration results from a G to A substitution at nucleotide position 325, causing the valine (V) at amino acid position 109 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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