ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.28G>T (p.Ala10Ser)

dbSNP: rs577872969
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972989 SCV002252462 uncertain significance Hereditary spastic paraplegia 7 2022-06-08 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SPG7 protein function. This missense change has been observed in individual(s) with hereditary spastic paraplegia (PMID: 14985266). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 10 of the SPG7 protein (p.Ala10Ser).

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