ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)

gnomAD frequency: 0.00001  dbSNP: rs751515136
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762255 SCV000892544 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000822815 SCV000963632 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000762255 SCV001988990 uncertain significance not provided 2023-10-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252233 SCV002523051 uncertain significance See cases 2022-03-16 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV003320369 SCV004024486 uncertain significance Tip-toe gait 2023-05-05 no assertion criteria provided clinical testing Hereditary motor sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth Disease (CMT), is the most commonly inherited peripheral polyneuropathy. It constitutes a group of inherited, progressive, motor and sensory peripheral nerve disorders with properties of demyelination, axonal degeneration, or both. It is classified by clinical characteristics, modes of inheritance, electrophysiologic features, metabolic defects, and specific gene markers. Our patients all walk on tiptoe, so they show similar symptoms. When we genetically test them with our toe walking panel, we find that around 90 per cent of them have a genetic variant that explains their toe walking. These can be assigned, for example, to the area of myopathies (such as variants of the COL6A3 gene), the area of hereditary neuropathies (such as variants of the KMT2C gene) or the area of metabolic diseases (such as variants of the PYGM gene). In a smaller group of patients with almost identical symptoms, no abnormality is found in the genes of our panel, but spastic paraplegia can be detected. In another small group of our toe walkers, no abnormalities can be detected in the genes analysed in our toe walking panel, nor do they suffer from spastic paraplegia, as is also the case with healthy children. In contrast to these, however, they show a tiptoe gait. These patients suffer from infantile cerebral palsy, in which toe walking can also be observed.

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