Submissions for variant NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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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	RCV002624233	SCV003514128	likely pathogenic	Spastic paraplegia	2022-03-30	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 missense change has been observed in individuals with autosomal recessive spastic ataxia of Charlevoix-Saguenay (PMID: 23785480, 26288984). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 4451 of the SACS protein (p.Leu4451Pro).
Baylor Genetics	RCV004572801	SCV005055558	likely pathogenic	Charlevoix-Saguenay spastic ataxia	2023-12-07	criteria provided, single submitter	clinical testing

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