ClinVar Miner

Submissions for variant NM_006459.4(ERLIN1):c.496A>G (p.Thr166Ala)

gnomAD frequency: 0.00001  dbSNP: rs1347300132
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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 RCV001935695 SCV002195536 uncertain significance Hereditary spastic paraplegia 62 2021-10-30 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ERLIN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 166 of the ERLIN1 protein (p.Thr166Ala).
Ambry Genetics RCV004043527 SCV003970153 uncertain significance not specified 2023-05-03 criteria provided, single submitter clinical testing The c.496A>G (p.T166A) alteration is located in exon 6 (coding exon 6) of the ERLIN1 gene. This alteration results from a A to G substitution at nucleotide position 496, causing the threonine (T) at amino acid position 166 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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