ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp)

gnomAD frequency: 0.00007  dbSNP: rs750269576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518358 SCV000615129 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765524 SCV000896838 uncertain significance Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001203277 SCV001374433 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2023-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965527 SCV005501669 uncertain significance Inborn genetic diseases 2024-10-01 criteria provided, single submitter clinical testing The c.3505A>G (p.N1169D) alteration is located in exon 19 (coding exon 18) of the SCN9A gene. This alteration results from a A to G substitution at nucleotide position 3505, causing the asparagine (N) at amino acid position 1169 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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