ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.559G>T (p.Val187Phe)

dbSNP: rs1344578174
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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 RCV000814678 SCV000955097 uncertain significance Spastic paraplegia 2018-11-15 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SACS-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with phenylalanine at codon 187 of the SACS protein (p.Val187Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.
Natera, Inc. RCV001825636 SCV002086752 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-04-23 no assertion criteria provided clinical testing

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