ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.814A>G (p.Ile272Val)

dbSNP: rs910919772
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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 RCV005057150 SCV001419933 uncertain significance Epilepsy with myoclonic atonic seizures 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 272 of the SLC6A1 protein (p.Ile272Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC6A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 970910). 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 SLC6A1 protein function. 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.
Ambry Genetics RCV004671298 SCV005169715 uncertain significance Inborn genetic diseases 2024-05-13 criteria provided, single submitter clinical testing The c.814A>G (p.I272V) alteration is located in exon 8 (coding exon 6) of the SLC6A1 gene. This alteration results from a A to G substitution at nucleotide position 814, causing the isoleucine (I) at amino acid position 272 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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