ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.454G>A (p.Ala152Thr)

gnomAD frequency: 0.00010  dbSNP: rs371769949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205661 SCV001376930 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SPART-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 936787). This variant is present in population databases (rs371769949, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 152 of the SPART protein (p.Ala152Thr).
Ambry Genetics RCV004033655 SCV004957355 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.454G>A (p.A152T) alteration is located in exon 2 (coding exon 1) of the SPG20 gene. This alteration results from a G to A substitution at nucleotide position 454, causing the alanine (A) at amino acid position 152 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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