ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn)

gnomAD frequency: 0.00004  dbSNP: rs747040987
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460554 SCV000548365 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730081 SCV000857792 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002628 SCV001160611 uncertain significance not specified 2019-06-17 criteria provided, single submitter clinical testing The SCN9A c.1714G>A, p.Asp572Asn variant (rs747040987), to our knowledge, is not reported in the medical literature but is reported as uncertain significance in ClinVar (Variation ID: 408586). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.04 percent in the Latino population (identified on 15 out of 34,528 chromosomes). The aspartic acid at position 572 is highly conserved and computational analyses of the effects of the p.Asp572Asn variant on protein structure and function is deleterious (SIFT: damaging, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Asp572Asn variant with certainty.
Mayo Clinic Laboratories, Mayo Clinic RCV000730081 SCV001715729 uncertain significance not provided 2020-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523312 SCV003699637 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.1714G>A (p.D572N) alteration is located in exon 12 (coding exon 11) of the SCN9A gene. This alteration results from a G to A substitution at nucleotide position 1714, causing the aspartic acid (D) at amino acid position 572 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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