ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.1030G>T (p.Ala344Ser)

dbSNP: rs757121467
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001961590 SCV002248839 uncertain significance Leber congenital amaurosis 4 2021-09-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 344 of the AIPL1 protein (p.Ala344Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs757121467, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with AIPL1-related conditions. 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: "Tolerated"; PolyPhen-2: "Not Available"; 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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