ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met)

gnomAD frequency: 0.00020  dbSNP: rs372194079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733517 SCV000861594 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing
Invitae RCV002535335 SCV003284933 uncertain significance Cholestanol storage disease 2022-09-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 343 of the CYP27A1 protein (p.Thr343Met). This variant is present in population databases (rs372194079, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 597410). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CYP27A1 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 RCV002535334 SCV003711386 uncertain significance Inborn genetic diseases 2022-06-17 criteria provided, single submitter clinical testing The c.1028C>T (p.T343M) alteration is located in exon 6 (coding exon 6) of the CYP27A1 gene. This alteration results from a C to T substitution at nucleotide position 1028, causing the threonine (T) at amino acid position 343 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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