ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1849C>T (p.Pro617Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002839545 SCV003220136 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-07-09 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. 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 sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 617 of the DIAPH1 protein (p.Pro617Ser).
Ambry Genetics RCV002846445 SCV003569672 uncertain significance Inborn genetic diseases 2021-08-04 criteria provided, single submitter clinical testing The c.1849C>T (p.P617S) alteration is located in exon 16 (coding exon 16) of the DIAPH1 gene. This alteration results from a C to T substitution at nucleotide position 1849, causing the proline (P) at amino acid position 617 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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