ClinVar Miner

Submissions for variant NM_001384910.1(GUCA1A):c.431A>T (p.Asp144Val)

dbSNP: rs1768035083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591783 SCV001815874 likely pathogenic Retinitis pigmentosa 2021-06-16 criteria provided, single submitter clinical testing
3billion RCV002283553 SCV002573099 likely pathogenic Cone dystrophy 3 2024-07-30 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v4.0.0 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.88 (>=0.6); 3Cnet: 0.74 (>=0.6)]. The same nucleotide change resulting in the same amino acid change has been previously reported to be associated with GUCA1A related disorder (ClinVar ID: VCV001213842). A different missense change at the same codon (p.Asp144Gly) has been reported to be associated with GUCA1A-related disorder (ClinVar ID: VCV000974934 / PMID: 32025184). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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