ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del)

dbSNP: rs786203558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166920 SCV000217739 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing The c.7057_7059delGAC variant (also known as p.D2353del) is located in coding exon 47 of the NF1 gene. This variant results from an in-frame deletion of 3 nucleotidesat positions 7057 to 7059, causing the removal of a highly-conserved aspartic acid residue at codon 2353. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.007% (greater than 30000 alleles tested) in our clinical cohort.Since supporting evidence is limited at this time, the clinical significance of c.7057_7059delGAC remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000463024 SCV000542174 uncertain significance Neurofibromatosis, type 1 2024-07-22 criteria provided, single submitter clinical testing This variant, c.6994_6996del, results in the deletion of 1 amino acid(s) of the NF1 protein (p.Asp2332del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 187215). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Genome-Nilou Lab RCV000463024 SCV002561032 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558402 SCV005048361 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-04-12 criteria provided, single submitter clinical testing The c.6994_6996delGAC (p.D2332del) alteration is located in exon 46 (coding exon 46) of the NF1 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.6994 and c.6996, resulting in the deletion of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004567321 SCV005052186 uncertain significance Juvenile myelomonocytic leukemia 2024-03-19 criteria provided, single submitter clinical testing

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