ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)

dbSNP: rs119482084
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001310659 SCV000279173 benign not provided 2019-12-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19132419, 21618344, 15037712, 19651702)
Labcorp Genetics (formerly Invitae), Labcorp RCV000005069 SCV000626927 likely benign Hereditary sensory and autonomic neuropathy type 1 2025-01-14 criteria provided, single submitter clinical testing
Mendelics RCV001249812 SCV001137821 likely benign Neuropathy, hereditary sensory and autonomic, type 1A 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001249812 SCV001158141 likely benign Neuropathy, hereditary sensory and autonomic, type 1A 2020-02-03 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV000789583 SCV001337208 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310659 SCV001500546 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SPTLC1: BS3:Supporting, BS2
Ambry Genetics RCV002371761 SCV002625095 likely benign Inborn genetic diseases 2019-11-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
OMIM RCV000005069 SCV000025245 uncertain significance Hereditary sensory and autonomic neuropathy type 1 2009-04-01 no assertion criteria provided literature only
GeneReviews RCV001249812 SCV000058071 not provided Neuropathy, hereditary sensory and autonomic, type 1A no assertion provided literature only
Inherited Neuropathy Consortium RCV000789583 SCV000928939 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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