ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1852C>T (p.Pro618Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003783289 SCV004568529 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 618 of the DIAPH1 protein (p.Pro618Ser). 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 variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV004366509 SCV004857587 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.1852C>T (p.P618S) 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 1852, causing the proline (P) at amino acid position 618 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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