ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.292C>T (p.Pro98Ser)

gnomAD frequency: 0.00004  dbSNP: rs1437006739
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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 RCV001039070 SCV001202581 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 98 of the SGCD protein (p.Pro98Ser). 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: 837681). 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 RCV002434448 SCV002746058 uncertain significance Inborn genetic diseases 2023-12-12 criteria provided, single submitter clinical testing The p.P98S variant (also known as c.292C>T), located in coding exon 3 of the SGCD gene, results from a C to T substitution at nucleotide position 292. The proline at codon 98 is replaced by serine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV002505564 SCV002815399 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-11-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001039070 SCV003931806 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233931 SCV003931807 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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