ClinVar Miner

Submissions for variant NM_000541.5(SAG):c.398C>T (p.Ser133Leu) (rs1324934886)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV000721116 SCV000747189 likely pathogenic Oguchi disease 2018-05-09 criteria provided, single submitter clinical testing The p.(Ser133Leu) in SAG was identified in homozygous state in a male patient affected by Oguchi disease type 1. His parents are relatives. Application of ACMG guidelines: PM1, it's in a functional domain; PM2, absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium; PP3, multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, evolutionary, splicing impact, etc.): PP4, the patient's phenotype is specific for mutations in this gene. In summary, the p.(Ser133Leu) has been classified as likely pathogenic according to ACMG guidelines.
Invitae RCV001317376 SCV001508035 uncertain significance not provided 2020-06-16 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 133 of the SAG protein (p.Ser133Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Oguchi disease (PMID: 30267901). ClinVar contains an entry for this variant (Variation ID: 559444). 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). 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.

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