ClinVar Miner

Submissions for variant NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser)

dbSNP: rs1286943189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002011709 SCV002298877 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing 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. 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 affected with SEMA4A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 595 of the SEMA4A protein (p.Pro595Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine.
Ambry Genetics RCV004046668 SCV003562822 uncertain significance not specified 2021-07-09 criteria provided, single submitter clinical testing The c.1783C>T (p.P595S) alteration is located in exon 15 (coding exon 14) of the SEMA4A gene. This alteration results from a C to T substitution at nucleotide position 1783, causing the proline (P) at amino acid position 595 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003339894 SCV004048604 uncertain significance Cone-rod dystrophy 10 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339893 SCV004048605 uncertain significance Retinitis pigmentosa 35 2023-04-11 criteria provided, single submitter clinical testing

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