ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser)

gnomAD frequency: 0.00001  dbSNP: rs1423948383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350213 SCV001544595 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2020-10-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DIAPH1-related conditions. This sequence change replaces asparagine with serine at codon 1222 of the DIAPH1 protein (p.Asn1222Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.

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