ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.473C>T (p.Ala158Val)

gnomAD frequency: 0.00022  dbSNP: rs138934573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416132 SCV000493609 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000416132 SCV001197780 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001142222 SCV001302642 uncertain significance Achromatopsia 2 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.
Ambry Genetics RCV002524677 SCV003703786 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.473C>T (p.A158V) alteration is located in exon 6 (coding exon 5) of the CNGA3 gene. This alteration results from a C to T substitution at nucleotide position 473, causing the alanine (A) at amino acid position 158 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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