ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.623C>T (p.Ala208Val)

gnomAD frequency: 0.00002  dbSNP: rs758624540
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222794 SCV000274256 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-01 criteria provided, single submitter clinical testing The p.A208V variant (also known as c.623C>T), located in coding exon 6 of the NF1 gene, results from a C to T substitution at nucleotide position 623. The alanine at codon 208 is replaced by valine, an amino acid with similar properties. 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 6498 samples (12996 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.004% (greater than 110000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.A208V remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000525463 SCV000628704 likely benign Neurofibromatosis, type 1 2024-10-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000525463 SCV001527160 uncertain significance Neurofibromatosis, type 1 2018-06-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV000222794 SCV002527654 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-21 criteria provided, single submitter curation
Ambry Genetics RCV004558494 SCV005048286 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-03-07 criteria provided, single submitter clinical testing The c.623C>T (p.A208V) alteration is located in exon 6 (coding exon 6) of the NF1 gene. This alteration results from a C to T substitution at nucleotide position 623, causing the alanine (A) at amino acid position 208 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005016579 SCV005646994 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2024-02-23 criteria provided, single submitter clinical testing

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