ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.354G>T (p.Gln118His)

gnomAD frequency: 0.00001  dbSNP: rs770930747
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545049 SCV000638171 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-11-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 118 of the SGCD protein (p.Gln118His). 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 variant has not been reported in the literature in individuals affected with SGCD-related conditions. ClinVar contains an entry for this variant (Variation ID: 464018). 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. 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 RCV002456111 SCV002617307 uncertain significance Inborn genetic diseases 2024-03-11 criteria provided, single submitter clinical testing The p.Q118H variant (also known as c.354G>T), located in coding exon 4 of the SGCD gene, results from a G to T substitution at nucleotide position 354. The glutamine at codon 118 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003139764 SCV003827651 uncertain significance not provided 2021-01-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000545049 SCV003931828 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233705 SCV003931829 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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