ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser)

dbSNP: rs2099896293
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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 RCV001067269 SCV001232320 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2019-12-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with serine at codon 314 of the DIAPH1 protein (p.Cys314Ser). The cysteine residue is moderately conserved and there is a moderate physicochemical difference between cysteine and serine. This variant has not been reported in the literature in individuals with DIAPH1-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.

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