ClinVar Miner

Submissions for variant NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe)

dbSNP: rs794727777
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179309 SCV000231539 uncertain significance not provided 2014-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179309 SCV001391516 pathogenic not provided 2023-01-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 198078). This missense change has been observed in individual(s) with macular dystrophy/cone dystrophy (PMID: 26766544, 28025326). 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 phenylalanine, which is neutral and non-polar, at codon 176 of the GUCA1A protein (p.Leu176Phe). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GUCA1A function (PMID: 28025326). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.
SIB Swiss Institute of Bioinformatics RCV001251248 SCV001426750 uncertain significance Cone dystrophy 3 2020-06-05 criteria provided, single submitter curation This variant is interpreted as a variant of uncertain significance for macular dystrophy, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Prevalence in affected individuals statistically increased over controls (PS4 downgraded to supporting); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1); Well-established functional studies show a deleterious effect (PS3 downgraded to supporting).
CeGaT Center for Human Genetics Tuebingen RCV000179309 SCV002563893 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing

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