ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr)

gnomAD frequency: 0.00002  dbSNP: rs532196989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235055 SCV001407719 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2019-10-28 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with DIAPH1-related conditions. This variant is present in population databases (rs532196989, ExAC 0.01%). This sequence change replaces methionine with threonine at codon 256 of the DIAPH1 protein (p.Met256Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine.
GeneDx RCV001751460 SCV001988277 uncertain significance not provided 2019-01-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002563819 SCV003631542 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The c.767T>C (p.M256T) alteration is located in exon 8 (coding exon 8) of the DIAPH1 gene. This alteration results from a T to C substitution at nucleotide position 767, causing the methionine (M) at amino acid position 256 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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