ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4554C>G (p.Ser1518Arg)

dbSNP: rs775395101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003768926 SCV004581353 uncertain significance Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-07-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KIF1A protein function. ClinVar contains an entry for this variant (Variation ID: 829846). This variant has not been reported in the literature in individuals affected with KIF1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1417 of the KIF1A protein (p.Ser1417Arg).
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029785 SCV001192564 uncertain significance Intellectual disability, autosomal dominant 9 2019-05-27 no assertion criteria provided clinical testing

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