ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.741_742delinsAA (p.Arg248Ser)

dbSNP: rs2130207135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025454 SCV002269400 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2022-09-27 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces arginine with serine at codon 248 of the GDF6 protein (p.Arg248Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. This variant has not been reported in the literature in individuals affected with GDF6-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1483523).

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