ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.647C>T (p.Ala216Val)

dbSNP: rs754221623
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001156281 SCV001317769 uncertain significance Leber congenital amaurosis 15 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001157948 SCV001319557 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001365992 SCV001562278 uncertain significance not provided 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 216 of the TULP1 protein (p.Ala216Val). This variant is present in population databases (rs754221623, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with TULP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 906838). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001156281 SCV002762846 uncertain significance Leber congenital amaurosis 15 2022-12-02 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 7 of the TULP1 gene that results in the amino acid substitution of Valine for Alanine at codon 216 (p.Ala216Val) was detected. This variant has not been reported in the 1000 genomes databases. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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