ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.949T>A (p.Leu317Met)

gnomAD frequency: 0.00001  dbSNP: rs766071179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308718 SCV001498187 uncertain significance Galactosylceramide beta-galactosidase deficiency 2022-03-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 317 of the GALC protein (p.Leu317Met). This variant is present in population databases (rs766071179, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GALC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1010987). 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 GALC 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 RCV002543246 SCV003555911 uncertain significance Inborn genetic diseases 2021-06-30 criteria provided, single submitter clinical testing The c.949T>A (p.L317M) alteration is located in exon 9 (coding exon 9) of the GALC gene. This alteration results from a T to A substitution at nucleotide position 949, causing the leucine (L) at amino acid position 317 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001308718 SCV002093642 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-03-27 no assertion criteria provided clinical testing

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