ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5858A>T (p.His1953Leu)

dbSNP: rs1428265468
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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 RCV000633048 SCV000754260 uncertain significance Spastic paraplegia 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1953 of the SACS protein (p.His1953Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 528004). 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 SACS protein function. 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.
Natera, Inc. RCV001276940 SCV001463606 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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